FSHD & LGMD

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facioscapulohumeral muscular dystrophy AND limb girdle muscular dystrophy

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Facioscapulohumeral Muscular Dystrophy (FSHD) & Limb-Girdle Muscular Dystrophy (LGMD)

FSHD

Overview & Epidemiology

FSHD is the third most common hereditary myopathy, with a prevalence of ~5 per 100,000. It typically presents in childhood or young adulthood (age 6-20), though adult-onset cases occur. Inheritance is autosomal dominant. Two genetically distinct subtypes exist:

FSHD1 (~95%): deletions of tandem 3.3-kb repeat units at 4q35, reducing the D4Z4 repeat array to <35 kb
FSHD2 (~5%): no deletion; instead, mutations in SMCHD1 (most common), DNMT3B, or LRIF1 genes

Both subtypes share the same final mechanism - the D4Z4 region becomes hypomethylated, permitting toxic re-expression of the DUX4 gene (which encodes a transcription factor normally silenced after early development). DUX4 overexpression dysregulates downstream gene expression, leading to muscle fiber death. FSHD1 and FSHD2 are clinically and histopathologically identical.

Clinical Features

FSHD has a characteristic descending pattern of weakness:

Region	Specific Findings
Face	Inability to smile, whistle, or firmly close eyes; orbicularis oculi + oris involved; masseters/extraocular muscles spared
Shoulder	Scapular winging ("angel-wing" appearance), loss of scapular stabilizers, difficulty raising arms; biceps/triceps affected but deltoid relatively spared
Arms	Wrist extension > wrist flexion weakness
Legs	Anterior compartment weakness → foot drop
Pelvis	20% of patients eventually develop pelvic girdle weakness → wheelchair dependency

Extra-muscular features:

Ventilatory muscle weakness: ~5%
Sensorineural hearing loss (increased incidence)
Coats' disease: retinal telangiectasias, exudation, and retinal detachment
Heart is generally not involved (distinguishes FSHD from many other dystrophies)

Labs & Investigations

Serum CK: normal or mildly elevated
EMG: nonspecific myopathic pattern
Muscle biopsy: nonspecific dystrophic changes; can show prominent inflammatory infiltrate - may be misdiagnosed as myositis
Genetic testing: diagnosis confirmed by D4Z4 repeat size analysis (FSHD1) or SMCHD1/DNMT3B/LRIF1 sequencing (FSHD2)

Treatment

Currently no disease-modifying therapy is approved. Clinical trials targeting DUX4 expression suppression are ongoing. Current management:

Physical and occupational therapy
Ankle-foot orthoses (AFO) for foot drop
Scapular fixation surgery: improves winging and function
Respiratory monitoring (spirometry) for the 5% with ventilatory involvement

Limb-Girdle Muscular Dystrophy (LGMD)

Overview & Epidemiology

LGMDs are a genetically heterogeneous group of dystrophies affecting males and females equally. Onset ranges from late first decade to fourth decade of life. Prevalence: ~1.63 per 100,000 (range 0.56-5.75 per 100,000). The group is defined by:

Progressive proximal (pelvic and shoulder girdle) weakness
Independent ambulation achieved at some point
Elevated CK
Dystrophic features on biopsy or imaging
At least two unrelated families reported with the same mutation

Classification - ENMC Nomenclature (2018)

The older system used LGMD1 (autosomal dominant) and LGMD2 (autosomal recessive) with alphabetical suffixes. The modern ENMC system uses:

LGMDD (Dominant) + number
LGMDR (Recessive) + number

Key subtypes:

Old Name	New Name	Gene/Protein	Key Feature
LGMD2A	LGMDR1	CAPN3 / Calpain-3	Most common; scapular winging; no cardiac/respiratory involvement; common in Southern Europe
LGMD2B	LGMDR2	DYSF / Dysferlin	Calf-predominant initially (Miyoshi myopathy overlap)
LGMD2C-F	LGMDR3-6	Sarcoglycans (γ, α, β, δ)	Sarcoglycanopathies; can resemble DMD
LGMD2I	LGMDR9	FKRP / Fukutin-related protein	Common in northern Europeans; calf hypertrophy; cardiac + respiratory involvement
LGMD2L	LGMDR12	ANO5 / Anoctamin-5	~7% of LGMD in the US; medial calf atrophy; overlaps with dysferlinopathy pattern
LGMD1B	LGMDD1	LMNA / Lamin A/C	Now reclassified under EDMD; cardiac conduction defects prominent

Note: Laminopathies (old LGMD1B) and myofibrillar myopathies (old LGMD1A/myotilin) are now reclassified out of LGMD into EDMD and MFM groups respectively under the ENMC system.

Clinical Features

Progressive proximal weakness of pelvic + shoulder girdle muscles
Often clinically indistinguishable from Duchenne/Becker muscular dystrophy
Respiratory insufficiency from diaphragm weakness - variable by subtype
Cardiomyopathy - variable by subtype (prominent in LGMDR9/FKRP, laminopathies)
Serum CK elevated (often markedly)
EMG: myopathic
Muscle biopsy: dystrophic features + immunohistochemistry (sarcoglycans, dysferlin, α-dystroglycan) helps narrow subtype

Critical diagnostic point: Immune-mediated necrotizing myopathy (IMNM) can mimic LGMD both clinically and histopathologically. Any suspected LGMD without a confirmed pathogenic mutation should be screened for anti-HMGCR and anti-SRP antibodies - these indicate a treatable autoimmune condition.

Diagnosis

Definitive diagnosis requires genetic testing (next-generation sequencing panel). Immunohistochemistry on biopsy can guide pre-genetic workup. The protein interaction map below shows where the relevant proteins reside within the muscle fiber architecture:

Proteins in muscular dystrophies - sarcolemmal, sarcomeric, nuclear, and enzymatic

Figure: Protein interactions at the sarcolemma, sarcomere, and nuclear envelope relevant to LGMD and related muscular dystrophies (Harrison's 22E)

Treatment

No curative therapy for most subtypes
Pompe disease (acid maltase deficiency, formerly LGMD2V/LGMDR22): enzyme replacement therapy (alglucosidase alfa) is available and effective - the only LGMD subtype with approved disease-modifying therapy
Physical therapy, respiratory support (NIV when needed), cardiac surveillance and management (ACE inhibitors/beta-blockers for cardiomyopathy)
Regular cardiac monitoring especially for LGMDR9 (FKRP), laminopathies, and sarcoglycanopathies

FSHD vs LGMD - Key Comparisons

Feature	FSHD	LGMD
Pattern	Facial + scapulohumeral + descending	Proximal pelvic + shoulder girdle
Inheritance	Autosomal dominant (AD)	AD (LGMDD) or AR (LGMDR); AR more common
Genetics	D4Z4 deletion at 4q35 (FSHD1); SMCHD1/DNMT3B/LRIF1 (FSHD2)	Heterogeneous: calpain-3, dysferlin, sarcoglycans, FKRP, anoctamin-5, etc.
Facial weakness	Yes - hallmark	No
Cardiac	Typically spared	Yes, in several subtypes (FKRP, laminopathies)
Respiratory	~5%	Variable; prominent in some subtypes
CK	Normal to mildly elevated	Markedly elevated
Hearing loss	Yes (increased incidence)	No
Coats' disease	Yes	No
Disease-modifying Rx	None (DUX4 trials ongoing)	ERT for Pompe; none for others
Scapular winging	Prominent, early	Can occur in calpainopathy; less prominent

Sources: Harrison's Principles of Internal Medicine 22E (2025), Adams and Victor's Principles of Neurology 12th Ed - FSHD and LGMD sections; Bradley and Daroff's Neurology in Clinical Practice - LGMD in pregnancy

Can u generate a ppt for me on these 2 topics

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mkdir -p /home/daytona/workspace/fshd-lgmd-ppt && ls /home/daytona/workspace/fshd-lgmd-ppt/

Writing File

~/fshd-lgmd-ppt/generate.js

const pptxgen = require("pptxgenjs");

const pres = new pptxgen();
pres.layout = "LAYOUT_16x9";
pres.title = "FSHD & LGMD - Muscular Dystrophies";
pres.author = "Medical Education";

// ─── COLOR PALETTE ───────────────────────────────────────────────
// Deep navy dominant, teal accent, warm coral highlight
const C = {
  navyDark:   "0D1B2A",  // dark bg
  navy:       "1B2E45",  // mid bg
  navyMid:    "1E3A5F",  // card bg
  teal:       "00BFA6",  // accent 1
  tealDark:   "007D6B",  // accent 1 dark
  coral:      "FF6B6B",  // accent 2 / LGMD
  sky:        "4FC3F7",  // light accent
  white:      "FFFFFF",
  offWhite:   "E8F0FE",
  gray:       "B0BEC5",
  lightGray:  "CFD8DC",
  cardBg:     "132438",
  fshd:       "00BFA6",  // FSHD = teal
  lgmd:       "FF6B6B",  // LGMD = coral
  yellow:     "FFD600",
};

// ─── HELPERS ─────────────────────────────────────────────────────
function darkSlide(slide) {
  slide.background = { color: C.navyDark };
}
function midSlide(slide) {
  slide.background = { color: C.navy };
}

function sectionDivider(slide, label, color, subtitle) {
  slide.background = { color: C.navyDark };
  // accent bar left
  slide.addShape(pres.shapes.RECTANGLE, { x: 0, y: 0, w: 0.18, h: 5.625, fill: { color: color }, line: { type: "none" } });
  // big label
  slide.addText(label, {
    x: 0.4, y: 1.5, w: 9.3, h: 1.6,
    fontSize: 52, bold: true, color: C.white, fontFace: "Calibri",
    align: "left", valign: "middle"
  });
  if (subtitle) {
    slide.addText(subtitle, {
      x: 0.4, y: 3.2, w: 9.3, h: 0.7,
      fontSize: 20, color: color, fontFace: "Calibri",
      align: "left", bold: false
    });
  }
  // decorative circle
  slide.addShape(pres.shapes.OVAL, { x: 8.2, y: 0.4, w: 1.8, h: 1.8, fill: { color: color, transparency: 80 }, line: { type: "none" } });
  slide.addShape(pres.shapes.OVAL, { x: 8.5, y: 0.8, w: 1.2, h: 1.2, fill: { color: color, transparency: 50 }, line: { type: "none" } });
}

function slideTitle(slide, title, accent) {
  // top bar
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  slide.addShape(pres.shapes.RECTANGLE, { x: 0, y: 0.72, w: 10, h: 0.06, fill: { color: accent || C.teal }, line: { type: "none" } });
  slide.addText(title, {
    x: 0.3, y: 0.05, w: 9.4, h: 0.62,
    fontSize: 22, bold: true, color: C.white, fontFace: "Calibri",
    align: "left", valign: "middle", margin: 0
  });
}

function infoCard(slide, x, y, w, h, title, titleColor, lines) {
  slide.addShape(pres.shapes.RECTANGLE, { x, y, w, h, fill: { color: C.cardBg }, line: { color: titleColor, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 8, offset: 3, angle: 135, opacity: 0.25 } });
  // card title bar
  slide.addShape(pres.shapes.RECTANGLE, { x, y, w, h: 0.38, fill: { color: titleColor, transparency: 15 }, line: { type: "none" } });
  slide.addText(title, { x: x + 0.12, y: y + 0.03, w: w - 0.2, h: 0.33, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  // body
  const items = lines.map((l, i) => ({
    text: l,
    options: { bullet: { type: "bullet" }, breakLine: i < lines.length - 1, fontSize: 11.5, color: C.offWhite, fontFace: "Calibri" }
  }));
  slide.addText(items, { x: x + 0.12, y: y + 0.43, w: w - 0.2, h: h - 0.53, valign: "top", margin: 0 });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 1 — TITLE SLIDE
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  s.background = { color: C.navyDark };

  // gradient-like side accent
  s.addShape(pres.shapes.RECTANGLE, { x: 0, y: 0, w: 0.35, h: 5.625, fill: { color: C.teal }, line: { type: "none" } });
  s.addShape(pres.shapes.RECTANGLE, { x: 0.35, y: 0, w: 0.12, h: 5.625, fill: { color: C.teal, transparency: 60 }, line: { type: "none" } });

  // FSHD pill
  s.addShape(pres.shapes.ROUNDED_RECTANGLE, { x: 0.7, y: 0.9, w: 2.2, h: 0.5, fill: { color: C.teal, transparency: 20 }, line: { type: "none" }, rectRadius: 0.12 });
  s.addText("FSHD", { x: 0.7, y: 0.9, w: 2.2, h: 0.5, fontSize: 16, bold: true, color: C.white, align: "center", valign: "middle", fontFace: "Calibri", margin: 0 });

  // LGMD pill
  s.addShape(pres.shapes.ROUNDED_RECTANGLE, { x: 3.1, y: 0.9, w: 2.2, h: 0.5, fill: { color: C.coral, transparency: 20 }, line: { type: "none" }, rectRadius: 0.12 });
  s.addText("LGMD", { x: 3.1, y: 0.9, w: 2.2, h: 0.5, fontSize: 16, bold: true, color: C.white, align: "center", valign: "middle", fontFace: "Calibri", margin: 0 });

  // main title
  s.addText("Muscular Dystrophies", {
    x: 0.6, y: 1.55, w: 8.8, h: 1.1,
    fontSize: 46, bold: true, color: C.white, fontFace: "Calibri",
    align: "left", valign: "middle"
  });

  // subtitle
  s.addText("Facioscapulohumeral & Limb-Girdle Muscular Dystrophies", {
    x: 0.6, y: 2.7, w: 8.8, h: 0.6,
    fontSize: 20, color: C.sky, fontFace: "Calibri", align: "left"
  });

  // divider line
  s.addShape(pres.shapes.RECTANGLE, { x: 0.6, y: 3.42, w: 6.5, h: 0.04, fill: { color: C.gray, transparency: 40 }, line: { type: "none" } });

  // tagline
  s.addText("Genetics · Clinical Features · Diagnosis · Management", {
    x: 0.6, y: 3.6, w: 8.8, h: 0.45,
    fontSize: 14, color: C.gray, fontFace: "Calibri", align: "left"
  });

  // decorative circles
  s.addShape(pres.shapes.OVAL, { x: 7.8, y: 0.2, w: 2.5, h: 2.5, fill: { color: C.teal, transparency: 88 }, line: { type: "none" } });
  s.addShape(pres.shapes.OVAL, { x: 8.3, y: 2.8, w: 2.0, h: 2.0, fill: { color: C.coral, transparency: 88 }, line: { type: "none" } });
  s.addShape(pres.shapes.OVAL, { x: 8.8, y: 3.8, w: 1.2, h: 1.2, fill: { color: C.sky, transparency: 80 }, line: { type: "none" } });

  // footer
  s.addText("Based on Harrison's 22E · Adams & Victor Neurology 12E · 2025", {
    x: 0.6, y: 5.1, w: 8.8, h: 0.35,
    fontSize: 10, color: C.gray, fontFace: "Calibri", align: "left", italic: true
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 2 — OVERVIEW / AGENDA
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "Overview", C.sky);

  const items = [
    { label: "Part 1: FSHD", color: C.teal, desc: "Epidemiology, Genetics (DUX4/SMCHD1), Clinical Features, Investigations, Management" },
    { label: "Part 2: LGMD", color: C.coral, desc: "Classification (ENMC 2018), Subtypes, Clinical Features, Diagnosis, Management" },
    { label: "Comparison", color: C.sky, desc: "FSHD vs LGMD — side-by-side key differences" },
    { label: "Key Pearls", color: C.yellow, desc: "High-yield clinical reminders and diagnostic pitfalls" },
  ];

  items.forEach((item, i) => {
    const y = 1.05 + i * 1.05;
    s.addShape(pres.shapes.RECTANGLE, { x: 0.4, y, w: 9.2, h: 0.88, fill: { color: C.cardBg }, line: { color: item.color, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.2 } });
    s.addShape(pres.shapes.RECTANGLE, { x: 0.4, y, w: 0.12, h: 0.88, fill: { color: item.color }, line: { type: "none" } });
    s.addText(`${i + 1}`, { x: 0.55, y: y + 0.15, w: 0.52, h: 0.52, fontSize: 22, bold: true, color: item.color, align: "center", valign: "middle", fontFace: "Calibri", margin: 0 });
    s.addText(item.label, { x: 1.2, y: y + 0.08, w: 2.2, h: 0.34, fontSize: 15, bold: true, color: item.color, fontFace: "Calibri", valign: "middle", margin: 0 });
    s.addText(item.desc, { x: 1.2, y: y + 0.44, w: 8.1, h: 0.35, fontSize: 11.5, color: C.lightGray, fontFace: "Calibri", valign: "top", margin: 0 });
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 3 — FSHD SECTION DIVIDER
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  sectionDivider(s, "Facioscapulohumeral\nMuscular Dystrophy", C.teal, "FSHD — Part 1");
  s.addText("FSHD", { x: 0.4, y: 4.2, w: 2.5, h: 0.55, fontSize: 13, color: C.teal, fontFace: "Calibri", bold: true });
  s.addShape(pres.shapes.RECTANGLE, { x: 0.4, y: 4.75, w: 9.2, h: 0.04, fill: { color: C.teal, transparency: 60 }, line: { type: "none" } });
  s.addText("Prevalence: ~5 per 100,000 · Third most common hereditary myopathy", {
    x: 0.4, y: 4.85, w: 9.2, h: 0.4,
    fontSize: 12, color: C.gray, fontFace: "Calibri", italic: true
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 4 — FSHD GENETICS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "FSHD — Genetics & Pathogenesis", C.teal);

  // Two columns: FSHD1 and FSHD2
  // FSHD1 card
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.98, w: 4.5, h: 4.25, fill: { color: C.cardBg }, line: { color: C.teal, pt: 2 }, shadow: { type: "outer", color: "000000", blur: 8, offset: 3, angle: 135, opacity: 0.2 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.98, w: 4.5, h: 0.42, fill: { color: C.teal, transparency: 10 }, line: { type: "none" } });
  s.addText("FSHD Type 1  (95%)", { x: 0.45, y: 0.98, w: 4.2, h: 0.42, fontSize: 14, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText([
    { text: "Locus: ", options: { bold: true, breakLine: false } },
    { text: "Chromosome 4q35\n", options: { breakLine: true } },
    { text: "Mechanism: ", options: { bold: true, breakLine: false } },
    { text: "Deletion of D4Z4 tandem 3.3-kb repeats\n", options: { breakLine: true } },
    { text: "Result: ", options: { bold: true, breakLine: false } },
    { text: "Repeat array reduced to <35 kb\n", options: { breakLine: true } },
    { text: "Effect: ", options: { bold: true, breakLine: false } },
    { text: "Hypomethylation → DUX4 re-expression\n\n", options: { breakLine: true } },
    { text: "Inheritance: Autosomal Dominant", options: { bold: false, breakLine: true } },
  ], { x: 0.45, y: 1.46, w: 4.2, h: 3.6, fontSize: 12, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0 });

  // FSHD2 card
  s.addShape(pres.shapes.RECTANGLE, { x: 5.2, y: 0.98, w: 4.5, h: 4.25, fill: { color: C.cardBg }, line: { color: C.sky, pt: 2 }, shadow: { type: "outer", color: "000000", blur: 8, offset: 3, angle: 135, opacity: 0.2 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 5.2, y: 0.98, w: 4.5, h: 0.42, fill: { color: C.sky, transparency: 15 }, line: { type: "none" } });
  s.addText("FSHD Type 2  (5%)", { x: 5.35, y: 0.98, w: 4.2, h: 0.42, fontSize: 14, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });

  const fshd2genes = [
    "No D4Z4 deletion",
    "Gene mutations → hypomethylation of DUX4 region:",
    "  • SMCHD1 — most common (AD)",
    "  • DNMT3B — heterozygous mutations (AD)",
    "  • LRIF1 — homozygous mutations (AR)",
    "",
    "All three proteins normally interact with SMCHD1 to maintain methylation of D4Z4.",
    "",
    "Final common pathway: DUX4 overexpression → transcription factor dysregulation → muscle death",
  ];
  s.addText(fshd2genes.map((l, i) => ({ text: l, options: { breakLine: i < fshd2genes.length - 1, fontSize: 12, color: C.offWhite, fontFace: "Calibri" } })),
    { x: 5.35, y: 1.46, w: 4.2, h: 3.6, valign: "top", margin: 0 });

  // bottom note
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  s.addText("FSHD1 & FSHD2 are clinically and histopathologically IDENTICAL — same final DUX4 mechanism", {
    x: 0.3, y: 5.18, w: 9.4, h: 0.3, fontSize: 11, bold: true, color: C.teal, fontFace: "Calibri", align: "center", valign: "middle", margin: 0
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 5 — FSHD CLINICAL FEATURES
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "FSHD — Clinical Features", C.teal);

  // Weakness pattern diagram (left column)
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.9, w: 3.5, h: 4.55, fill: { color: C.cardBg }, line: { color: C.teal, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.2 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.9, w: 3.5, h: 0.38, fill: { color: C.teal, transparency: 10 }, line: { type: "none" } });
  s.addText("Weakness Pattern (Descending)", { x: 0.42, y: 0.9, w: 3.26, h: 0.38, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });

  const regions = [
    { r: "Face", d: "Orbicularis oculi/oris, zygomaticus\nCannot smile, whistle, close eyes\nSpared: masseter, EOM, pharyngeal" },
    { r: "Shoulder", d: "Scapular stabilizers, biceps, triceps\nScapular winging (\"angel-wing\")\nDeltoid relatively spared" },
    { r: "Arms", d: "Wrist extension > wrist flexion weakness" },
    { r: "Legs", d: "Anterior compartment weakness\nFoot drop" },
    { r: "Pelvis", d: "20% of patients\nMay → wheelchair dependency" },
  ];

  regions.forEach((item, i) => {
    const y = 1.36 + i * 0.82;
    s.addShape(pres.shapes.OVAL, { x: 0.45, y: y + 0.08, w: 0.32, h: 0.32, fill: { color: C.teal, transparency: 20 }, line: { type: "none" } });
    s.addText(`${i + 1}`, { x: 0.45, y: y + 0.08, w: 0.32, h: 0.32, fontSize: 10, bold: true, color: C.white, align: "center", valign: "middle", fontFace: "Calibri", margin: 0 });
    s.addText(item.r, { x: 0.85, y: y + 0.04, w: 2.8, h: 0.25, fontSize: 12, bold: true, color: C.teal, fontFace: "Calibri", margin: 0, valign: "middle" });
    s.addText(item.d, { x: 0.85, y: y + 0.28, w: 2.8, h: 0.45, fontSize: 10, color: C.lightGray, fontFace: "Calibri", margin: 0, valign: "top" });
  });

  // Right: Extra-muscular + key facts
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 0.9, w: 5.65, h: 2.0, fill: { color: C.cardBg }, line: { color: C.sky, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.18 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 0.9, w: 5.65, h: 0.38, fill: { color: C.sky, transparency: 15 }, line: { type: "none" } });
  s.addText("Extra-Muscular Features", { x: 4.12, y: 0.9, w: 5.4, h: 0.38, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText([
    { text: "• Sensorineural hearing loss ", options: { bold: false, breakLine: true } },
    { text: "• Coats' disease ", options: { bold: true, breakLine: false } },
    { text: "— retinal telangiectasias, exudation, detachment", options: { bold: false, breakLine: true } },
    { text: "• Ventilatory muscle weakness in ~5%", options: { breakLine: true } },
    { text: "• Heart: generally SPARED ", options: { bold: true, color: C.teal, breakLine: false } },
    { text: "(distinguishes from DMD/EDMD)", options: { bold: false } },
  ], { x: 4.12, y: 1.32, w: 5.4, h: 1.45, fontSize: 12, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0 });

  // Labs card
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 3.05, w: 5.65, h: 1.5, fill: { color: C.cardBg }, line: { color: C.coral, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.18 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 3.05, w: 5.65, h: 0.38, fill: { color: C.coral, transparency: 15 }, line: { type: "none" } });
  s.addText("Investigations", { x: 4.12, y: 3.05, w: 5.4, h: 0.38, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText([
    { text: "CK: ", options: { bold: true, breakLine: false } },
    { text: "Normal to mildly elevated\n", options: { breakLine: true } },
    { text: "EMG: ", options: { bold: true, breakLine: false } },
    { text: "Nonspecific myopathic changes\n", options: { breakLine: true } },
    { text: "Biopsy: ", options: { bold: true, breakLine: false } },
    { text: "Nonspecific dystrophic features; may show inflammatory infiltrate (→ misdiagnosed as myositis!)\n", options: { breakLine: true } },
    { text: "Genetics: ", options: { bold: true, breakLine: false } },
    { text: "D4Z4 repeat sizing (FSHD1) / gene panel (FSHD2)", options: {} },
  ], { x: 4.12, y: 3.47, w: 5.4, h: 1.0, fontSize: 11, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0 });

  // Treatment card
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 4.65, w: 5.65, h: 0.78, fill: { color: C.cardBg }, line: { color: C.yellow, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 5, offset: 2, angle: 135, opacity: 0.18 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 4.0, y: 4.65, w: 5.65, h: 0.35, fill: { color: C.yellow, transparency: 20 }, line: { type: "none" } });
  s.addText("Management", { x: 4.12, y: 4.65, w: 5.4, h: 0.35, fontSize: 13, bold: true, color: C.navyDark, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText("No approved disease-modifying therapy  ·  DUX4-suppression trials ongoing  ·  PT/OT  ·  AFO for foot drop  ·  Scapular fixation surgery", {
    x: 4.12, y: 5.02, w: 5.4, h: 0.38, fontSize: 10.5, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 6 — LGMD SECTION DIVIDER
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  sectionDivider(s, "Limb-Girdle\nMuscular Dystrophies", C.coral, "LGMD — Part 2");
  s.addShape(pres.shapes.RECTANGLE, { x: 0.4, y: 4.75, w: 9.2, h: 0.04, fill: { color: C.coral, transparency: 60 }, line: { type: "none" } });
  s.addText("Prevalence: ~1.63 per 100,000 · Genetically heterogeneous · Males = Females", {
    x: 0.4, y: 4.85, w: 9.2, h: 0.4,
    fontSize: 12, color: C.gray, fontFace: "Calibri", italic: true
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 7 — LGMD OVERVIEW & CLASSIFICATION
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "LGMD — Overview & ENMC Classification (2018)", C.coral);

  // Left: definition
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.9, w: 4.4, h: 2.25, fill: { color: C.cardBg }, line: { color: C.coral, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.18 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 0.3, y: 0.9, w: 4.4, h: 0.38, fill: { color: C.coral, transparency: 10 }, line: { type: "none" } });
  s.addText("Defining Criteria (ENMC 2018)", { x: 0.42, y: 0.9, w: 4.16, h: 0.38, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText([
    "• ≥2 unrelated families reported",
    "• Predominantly proximal weakness at onset",
    "• Independent ambulation achieved",
    "• CK elevated",
    "• Dystrophic features on biopsy/imaging",
  ].map((l, i) => ({ text: l, options: { breakLine: i < 4, fontSize: 12, color: C.offWhite, fontFace: "Calibri" } })),
    { x: 0.42, y: 1.32, w: 4.16, h: 1.75, valign: "top", margin: 0 });

  // Nomenclature
  s.addShape(pres.shapes.RECTANGLE, { x: 4.9, y: 0.9, w: 4.8, h: 2.25, fill: { color: C.cardBg }, line: { color: C.sky, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.18 } });
  s.addShape(pres.shapes.RECTANGLE, { x: 4.9, y: 0.9, w: 4.8, h: 0.38, fill: { color: C.sky, transparency: 15 }, line: { type: "none" } });
  s.addText("New ENMC Nomenclature", { x: 5.02, y: 0.9, w: 4.55, h: 0.38, fontSize: 13, bold: true, color: C.white, fontFace: "Calibri", valign: "middle", margin: 0 });
  s.addText([
    { text: "LGMDD", options: { bold: true, color: C.sky, breakLine: false } },
    { text: " = Autosomal Dominant (formerly LGMD1x)\n", options: { breakLine: true } },
    { text: "LGMDR", options: { bold: true, color: C.coral, breakLine: false } },
    { text: " = Autosomal Recessive (formerly LGMD2x)\n\n", options: { breakLine: true } },
    { text: "Followed by a number based on gene\n\n", options: { breakLine: true } },
    { text: "e.g. Calpainopathy: LGMD2A → LGMDR1\n", options: { breakLine: true } },
    { text: "Note: ", options: { bold: true, breakLine: false } },
    { text: "Laminopathies → reclassified as EDMD\nMyofibrillar myopathy → separate category", options: { breakLine: false } },
  ], { x: 5.02, y: 1.32, w: 4.55, h: 1.75, fontSize: 12, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0 });

  // Key subtypes table
  s.addText("Key Subtypes", { x: 0.3, y: 3.28, w: 9.4, h: 0.35, fontSize: 14, bold: true, color: C.coral, fontFace: "Calibri", valign: "middle" });

  const tblData = [
    [
      { text: "Old Name", options: { bold: true, color: C.white, fill: { color: C.navyMid }, fontSize: 11, fontFace: "Calibri" } },
      { text: "New Name", options: { bold: true, color: C.white, fill: { color: C.navyMid }, fontSize: 11, fontFace: "Calibri" } },
      { text: "Gene / Protein", options: { bold: true, color: C.white, fill: { color: C.navyMid }, fontSize: 11, fontFace: "Calibri" } },
      { text: "Key Clinical Feature", options: { bold: true, color: C.white, fill: { color: C.navyMid }, fontSize: 11, fontFace: "Calibri" } },
    ],
    [
      { text: "LGMD2A", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "LGMDR1", options: { color: C.teal, bold: true, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "CAPN3 / Calpain-3", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "Most common; scapular winging; no cardiac/resp", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
    ],
    [
      { text: "LGMD2B", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "LGMDR2", options: { color: C.teal, bold: true, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "DYSF / Dysferlin", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "Calf-predominant; Miyoshi myopathy overlap", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
    ],
    [
      { text: "LGMD2C–F", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "LGMDR3–6", options: { color: C.teal, bold: true, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "Sarcoglycans (γ,α,β,δ)", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "Sarcoglycanopathy; can resemble DMD", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
    ],
    [
      { text: "LGMD2I", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "LGMDR9", options: { color: C.coral, bold: true, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "FKRP / Fukutin-related", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "Common N. Europeans; calf hypertrophy; cardiac+resp↑", options: { color: C.offWhite, fill: { color: C.navy }, fontSize: 10.5, fontFace: "Calibri" } },
    ],
    [
      { text: "LGMD2L", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "LGMDR12", options: { color: C.coral, bold: true, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "ANO5 / Anoctamin-5", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
      { text: "~7% US LGMD; medial calf atrophy", options: { color: C.offWhite, fill: { color: C.cardBg }, fontSize: 10.5, fontFace: "Calibri" } },
    ],
  ];

  s.addTable(tblData, {
    x: 0.3, y: 3.63, w: 9.4, rowH: 0.3,
    border: { pt: 0.8, color: "243B55" },
    colW: [1.5, 1.5, 2.4, 4.0],
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 8 — LGMD CLINICAL FEATURES & DIAGNOSIS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "LGMD — Clinical Features, Diagnosis & Management", C.coral);

  infoCard(s, 0.3, 0.9, 4.55, 2.15, "Clinical Features", C.coral, [
    "Progressive proximal pelvic + shoulder girdle weakness",
    "Males = Females; onset 1st–4th decade",
    "Often indistinguishable from DMD/BMD clinically",
    "Respiratory insufficiency (diaphragm weakness) — variable",
    "Cardiomyopathy — variable by subtype",
    "Serum CK: markedly elevated",
    "EMG: myopathic pattern",
  ]);

  infoCard(s, 5.05, 0.9, 4.6, 2.15, "Investigations", C.sky, [
    "Serum CK: markedly elevated (often 10–50× normal)",
    "EMG: myopathic",
    "Muscle biopsy: dystrophic features",
    "IHC: sarcoglycans, dysferlin, α-dystroglycan",
    "Definitive: Genetic testing (NGS panel)",
    "Screen anti-HMGCR & anti-SRP if no mutation found (IMNM!)",
  ]);

  infoCard(s, 0.3, 3.2, 4.55, 2.1, "Diagnostic Pitfall", C.yellow, [
    "IMNM (immune-mediated necrotizing myopathy) mimics LGMD — both clinically and on biopsy",
    "Screen ALL suspected LGMD without confirmed mutation for:",
    "  → Anti-HMGCR antibodies",
    "  → Anti-SRP antibodies",
    "IMNM is TREATABLE — do not miss it!",
  ]);

  infoCard(s, 5.05, 3.2, 4.6, 2.1, "Management", C.teal, [
    "Most subtypes: no approved disease-modifying therapy",
    "EXCEPTION — Pompe disease (LGMDR22): Enzyme replacement therapy (alglucosidase alfa)",
    "PT/respiratory support (NIV when needed)",
    "Cardiac surveillance + ACE-I/β-blocker for cardiomyopathy",
    "Especially important: LGMDR9 (FKRP), laminopathies, sarcoglycanopathies",
  ]);
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 9 — COMPARISON TABLE
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "FSHD vs LGMD — Key Differences", C.sky);

  const hdr = (t, col) => ({ text: t, options: { bold: true, color: C.white, fill: { color: col }, fontSize: 12, fontFace: "Calibri", align: "center" } });
  const cel = (t, col, bg, bold) => ({ text: t, options: { color: col || C.offWhite, fill: { color: bg || C.cardBg }, fontSize: 11, fontFace: "Calibri", bold: !!bold } });
  const even = (t, col) => cel(t, col, C.navy);

  const cmpData = [
    [ hdr("Feature", C.navyMid), hdr("FSHD", C.tealDark), hdr("LGMD", "8B1A1A") ],
    [ cel("Weakness Pattern"), cel("Facial → scapulohumeral → distal", C.teal, C.cardBg, true), cel("Proximal pelvic + shoulder girdle", C.coral, C.cardBg, true) ],
    [ even("Inheritance"), even("Autosomal Dominant", C.sky), even("AD (LGMDD) or AR (LGMDR); AR more common") ],
    [ cel("Genetics"), cel("D4Z4 deletion 4q35 (FSHD1)\nSMCHD1/DNMT3B/LRIF1 (FSHD2)"), cel("Heterogeneous: calpain-3, dysferlin,\nsarcoglycans, FKRP, anoctamin-5…") ],
    [ even("Facial Weakness"), even("YES — hallmark", C.teal), even("NO") ],
    [ cel("Cardiac Involvement"), cel("Typically spared", C.teal), cel("Yes (LGMDR9, laminopathies)") ],
    [ even("Respiratory"), even("~5% affected"), even("Variable; prominent in some subtypes") ],
    [ cel("Serum CK"), cel("Normal – mildly elevated"), cel("Markedly elevated") ],
    [ even("Hearing Loss"), even("Yes — sensorineural", C.sky), even("No") ],
    [ cel("Coats' Disease"), cel("Yes"), cel("No") ],
    [ even("Disease-Modifying Rx"), even("None (DUX4 trials ongoing)"), even("ERT for Pompe; none for others") ],
    [ cel("Scapular Winging"), cel("Prominent, early feature", C.teal), cel("Present in calpainopathy (LGMDR1)") ],
  ];

  s.addTable(cmpData, {
    x: 0.3, y: 0.85, w: 9.4, rowH: 0.36,
    border: { pt: 0.5, color: "243B55" },
    colW: [2.5, 3.45, 3.45],
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 10 — HIGH YIELD PEARLS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midSlide(s);
  slideTitle(s, "High-Yield Clinical Pearls", C.yellow);

  const pearls = [
    { color: C.teal, label: "FSHD", text: "Both FSHD1 & FSHD2 share identical clinical presentation — differentiated only by genetic mechanism (D4Z4 deletion vs. epigenetic dysregulation via SMCHD1)." },
    { color: C.coral, label: "FSHD", text: "Muscle biopsy in FSHD can show inflammatory infiltrate → easily misdiagnosed as myositis. Always confirm with genetics." },
    { color: C.sky, label: "LGMD", text: "Immune-mediated necrotizing myopathy (IMNM) mimics LGMD. Suspect IMNM when no pathogenic mutation found → test anti-HMGCR, anti-SRP." },
    { color: C.yellow, label: "LGMD", text: "Pompe disease is the only LGMD subtype with an approved disease-modifying therapy — enzyme replacement therapy (alglucosidase alfa)." },
    { color: C.teal, label: "FSHD", text: "FSHD spares the heart — cardiac involvement should prompt reconsideration of the diagnosis (consider EDMD, sarcoglycanopathy)." },
    { color: C.coral, label: "LGMD", text: "LGMD2I/LGMDR9 (FKRP) causes calf hypertrophy and has cardiac + respiratory involvement out of proportion to extremity weakness." },
  ];

  pearls.forEach((p, i) => {
    const col = i % 2 === 0 ? 0 : 1;
    const row = Math.floor(i / 2);
    const x = col === 0 ? 0.3 : 5.1;
    const y = 0.95 + row * 1.5;
    const w = 4.6;

    s.addShape(pres.shapes.RECTANGLE, { x, y, w, h: 1.3, fill: { color: C.cardBg }, line: { color: p.color, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 6, offset: 2, angle: 135, opacity: 0.2 } });
    s.addShape(pres.shapes.RECTANGLE, { x, y, w: 0.12, h: 1.3, fill: { color: p.color }, line: { type: "none" } });
    s.addShape(pres.shapes.ROUNDED_RECTANGLE, { x: x + 0.2, y: y + 0.07, w: 0.85, h: 0.3, fill: { color: p.color, transparency: 20 }, line: { type: "none" }, rectRadius: 0.08 });
    s.addText(p.label, { x: x + 0.2, y: y + 0.07, w: 0.85, h: 0.3, fontSize: 10, bold: true, color: C.white, fontFace: "Calibri", align: "center", valign: "middle", margin: 0 });
    s.addText(p.text, { x: x + 0.2, y: y + 0.43, w: w - 0.3, h: 0.82, fontSize: 11, color: C.offWhite, fontFace: "Calibri", valign: "top", margin: 0 });
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 11 — CLOSING SLIDE
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  s.background = { color: C.navyDark };

  s.addShape(pres.shapes.RECTANGLE, { x: 0, y: 0, w: 10, h: 0.2, fill: { color: C.teal }, line: { type: "none" } });
  s.addShape(pres.shapes.RECTANGLE, { x: 0, y: 5.42, w: 10, h: 0.2, fill: { color: C.coral }, line: { type: "none" } });

  s.addShape(pres.shapes.OVAL, { x: 7.5, y: 0.5, w: 3.0, h: 3.0, fill: { color: C.teal, transparency: 90 }, line: { type: "none" } });
  s.addShape(pres.shapes.OVAL, { x: -0.5, y: 2.5, w: 2.5, h: 2.5, fill: { color: C.coral, transparency: 90 }, line: { type: "none" } });

  s.addText("Key Takeaways", { x: 1, y: 0.55, w: 8, h: 0.6, fontSize: 32, bold: true, color: C.white, fontFace: "Calibri", align: "center" });

  const takes = [
    { c: C.teal, t: "FSHD: DUX4 reactivation via D4Z4 hypomethylation → facial + scapulohumeral weakness; heart spared" },
    { c: C.coral, t: "LGMD: Genetically heterogeneous proximal myopathy; ENMC now uses LGMDD/LGMDR nomenclature" },
    { c: C.sky, t: "Always screen suspected LGMD without confirmed mutation for IMNM (anti-HMGCR/anti-SRP)" },
    { c: C.yellow, t: "Pompe disease = only LGMD with approved ERT; FSHD = no approved therapy yet" },
  ];

  takes.forEach((t, i) => {
    const y = 1.35 + i * 0.88;
    s.addShape(pres.shapes.RECTANGLE, { x: 1.5, y, w: 7.0, h: 0.72, fill: { color: C.cardBg }, line: { color: t.c, pt: 1.5 }, shadow: { type: "outer", color: "000000", blur: 5, offset: 2, angle: 135, opacity: 0.18 } });
    s.addShape(pres.shapes.OVAL, { x: 1.62, y: y + 0.16, w: 0.38, h: 0.38, fill: { color: t.c }, line: { type: "none" } });
    s.addText(`${i + 1}`, { x: 1.62, y: y + 0.16, w: 0.38, h: 0.38, fontSize: 11, bold: true, color: C.navyDark, align: "center", valign: "middle", fontFace: "Calibri", margin: 0 });
    s.addText(t.t, { x: 2.12, y: y + 0.1, w: 6.2, h: 0.52, fontSize: 12, color: C.offWhite, fontFace: "Calibri", valign: "middle", margin: 0 });
  });

  s.addText("Sources: Harrison's 22E (2025)  ·  Adams & Victor Neurology 12E  ·  Bradley & Daroff Neurology  ·  ENMC 2018 Nomenclature", {
    x: 1, y: 5.2, w: 8, h: 0.3, fontSize: 9.5, color: C.gray, fontFace: "Calibri", align: "center", italic: true
  });
}

// ─── WRITE FILE ───────────────────────────────────────────────────
pres.writeFile({ fileName: "/home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD.pptx" })
  .then(() => console.log("Done: /home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD.pptx"))
  .catch(e => { console.error(e); process.exit(1); });

Running Command

cd /home/daytona/workspace/fshd-lgmd-ppt && node generate.js 2>&1

Running Command

ls -lh /home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD.pptx

Your presentation is ready! Here's the download link:

FSHD LGMD

Presentation · PPTX

What's inside (11 slides):

Slide	Content
1	Title slide - dark navy with teal/coral accent design
2	Agenda / overview of both topics
3	FSHD section divider
4	FSHD Genetics - FSHD1 (D4Z4 deletion) vs FSHD2 (SMCHD1/DNMT3B/LRIF1) with DUX4 mechanism
5	FSHD Clinical features (descending weakness pattern), extra-muscular features, investigations, management
6	LGMD section divider
7	LGMD ENMC 2018 classification + full subtype table (LGMDR1-R12)
8	LGMD clinical features, diagnosis, diagnostic pitfall (IMNM), management
9	FSHD vs LGMD comparison table
10	High-yield clinical pearls (6 key take-home points)
11	Closing key takeaways slide

Design uses a deep navy background with teal for FSHD and coral/red for LGMD throughout, so both conditions are visually distinct.

Ppt with images

Finding Sources

Reading File

Running Command

cd /home/daytona/workspace/fshd-lgmd-ppt && node /home/daytona/skills/shared/scripts/fetch_images.js \ "https://cdn.orris.care/cdss_images/18671ab44836ba1c1d51185b873a95c659acf31d756d3ba7211f31b3d6079a31.png" \ "https://cdn.orris.care/cdss_images/50067d8ca6d87fe3ed23fb9aaadb4d8cf5d7792d5b3eb9ecf9a3fdd5534515b9.png" \ "https://cdn.orris.care/cdss_images/3d1062c3e2e095c5a0905ed0bb28d17d6162af29d5a404fe89f5081fd3ded955.png" \ "https://cdn.orris.care/cdss_images/3b96396b9050cedce9e4b4f7288b06ba01efea4ef862d9ab0131422d5e3f509a.png" \ "https://cdn.orris.care/cdss_images/e964aeec0d95235bc617280baf299454e0d353c67296790ca7d1e1af9e182eee.png" \ > /home/daytona/workspace/fshd-lgmd-ppt/images.json 2>&1 echo "Exit: $?" wc -c /home/daytona/workspace/fshd-lgmd-ppt/images.json

Writing File

~/fshd-lgmd-ppt/generate_with_images.js

const pptxgen = require("pptxgenjs");
const fs = require("fs");

// Load images
const imgs = JSON.parse(fs.readFileSync("/home/daytona/workspace/fshd-lgmd-ppt/images.json", "utf8"));
// imgs[0] = FSHD weakness pattern
// imgs[1] = LGMD weakness pattern
// imgs[2] = FSHD clinical photo (patient with lordosis/winging)
// imgs[3] = Scapulothoracic arthrodesis X-ray
// imgs[4] = LGMD protein interaction diagram

const imgFSHD_pattern  = imgs[0].base64;  // FSHD body diagram
const imgLGMD_pattern  = imgs[1].base64;  // LGMD body diagram
const imgFSHD_patient  = imgs[2].base64;  // FSHD clinical photo
const imgXray          = imgs[3].base64;  // scapulothoracic fusion XR
const imgProteins      = imgs[4].base64;  // LGMD protein map

const pres = new pptxgen();
pres.layout = "LAYOUT_16x9";
pres.title = "FSHD & LGMD — Muscular Dystrophies";

// ─── PALETTE ────────────────────────────────────────────────────
const C = {
  navyDark: "0A1628", navy: "112240", navyMid: "1A3A5C", cardBg: "0F2035",
  teal: "00C9A7", tealDark: "00896F",
  coral: "FF6B6B", coralDark: "CC4444",
  sky: "48CAE4", yellow: "FFD166",
  white: "FFFFFF", offWhite: "DCE8F5", gray: "8DA9C4", lightGray: "B8CFE8",
};

// ─── HELPERS ────────────────────────────────────────────────────
function darkBg(s) { s.background = { color: C.navyDark }; }
function midBg(s)  { s.background = { color: C.navy }; }

function slideHeader(s, title, accent) {
  s.addShape(pres.shapes.RECTANGLE, { x:0, y:0, w:10, h:0.68, fill:{color: C.navyDark}, line:{type:"none"} });
  s.addShape(pres.shapes.RECTANGLE, { x:0, y:0.68, w:10, h:0.055, fill:{color: accent}, line:{type:"none"} });
  s.addText(title, { x:0.3, y:0.04, w:9.4, h:0.6, fontSize:21, bold:true, color:C.white, fontFace:"Calibri", valign:"middle", margin:0 });
}

function card(s, x, y, w, h, title, accent, bodyItems, fontSize) {
  s.addShape(pres.shapes.RECTANGLE, {x,y,w,h, fill:{color:C.cardBg}, line:{color:accent, pt:1.5}, shadow:{type:"outer",color:"000000",blur:7,offset:2,angle:135,opacity:0.22}});
  s.addShape(pres.shapes.RECTANGLE, {x,y,w,h:0.36, fill:{color:accent,transparency:15}, line:{type:"none"}});
  s.addText(title, {x:x+0.1,y:y+0.02,w:w-0.15,h:0.33, fontSize:12.5,bold:true,color:C.white,fontFace:"Calibri",valign:"middle",margin:0});
  s.addText(bodyItems, {x:x+0.1,y:y+0.4,w:w-0.18,h:h-0.5, fontSize:fontSize||11.5, color:C.offWhite, fontFace:"Calibri", valign:"top", margin:0});
}

function imgCaption(s, x, y, w, text, color) {
  s.addShape(pres.shapes.RECTANGLE, {x,y,w,h:0.28, fill:{color:C.navyDark,transparency:20}, line:{type:"none"}});
  s.addText(text, {x,y,w,h:0.28, fontSize:9, color: color||C.gray, fontFace:"Calibri", align:"center", italic:true, valign:"middle", margin:0});
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 1 — TITLE
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  darkBg(s);

  // Left accent bar
  s.addShape(pres.shapes.RECTANGLE, {x:0,y:0,w:0.32,h:5.625, fill:{color:C.teal}, line:{type:"none"}});
  s.addShape(pres.shapes.RECTANGLE, {x:0.32,y:0,w:0.1,h:5.625, fill:{color:C.teal,transparency:65}, line:{type:"none"}});

  // Pills
  s.addShape(pres.shapes.ROUNDED_RECTANGLE, {x:0.6,y:0.85,w:2.0,h:0.46, fill:{color:C.teal,transparency:20}, line:{type:"none"}, rectRadius:0.1});
  s.addText("FSHD", {x:0.6,y:0.85,w:2.0,h:0.46, fontSize:15,bold:true,color:C.white,align:"center",valign:"middle",fontFace:"Calibri",margin:0});
  s.addShape(pres.shapes.ROUNDED_RECTANGLE, {x:2.85,y:0.85,w:2.0,h:0.46, fill:{color:C.coral,transparency:20}, line:{type:"none"}, rectRadius:0.1});
  s.addText("LGMD", {x:2.85,y:0.85,w:2.0,h:0.46, fontSize:15,bold:true,color:C.white,align:"center",valign:"middle",fontFace:"Calibri",margin:0});

  // Title
  s.addText("Muscular Dystrophies", {x:0.55,y:1.45,w:5.8,h:1.0, fontSize:42,bold:true,color:C.white,fontFace:"Calibri",align:"left",valign:"middle"});
  s.addText("Facioscapulohumeral & Limb-Girdle", {x:0.55,y:2.5,w:5.8,h:0.55, fontSize:18,color:C.sky,fontFace:"Calibri",align:"left"});
  s.addShape(pres.shapes.RECTANGLE, {x:0.55,y:3.18,w:5.5,h:0.04, fill:{color:C.gray,transparency:50}, line:{type:"none"}});
  s.addText("Genetics  ·  Clinical Features  ·  Diagnosis  ·  Management", {x:0.55,y:3.3,w:5.8,h:0.4, fontSize:13,color:C.gray,fontFace:"Calibri",align:"left"});

  // FSHD body image (right side)
  if (imgFSHD_pattern) {
    s.addImage({data: imgFSHD_pattern, x:6.55,y:0.3,w:1.65,h:3.2, altText:"FSHD weakness pattern"});
    imgCaption(s, 6.55, 3.5, 1.65, "FSHD pattern", C.teal);
  }
  // LGMD body image
  if (imgLGMD_pattern) {
    s.addImage({data: imgLGMD_pattern, x:8.35,y:0.3,w:1.55,h:3.2, altText:"LGMD weakness pattern"});
    imgCaption(s, 8.35, 3.5, 1.55, "LGMD pattern", C.coral);
  }

  // Decorative circles
  s.addShape(pres.shapes.OVAL, {x:6.2,y:4.0,w:2.0,h:2.0, fill:{color:C.teal,transparency:90}, line:{type:"none"}});
  s.addShape(pres.shapes.OVAL, {x:8.5,y:3.8,w:1.8,h:1.8, fill:{color:C.coral,transparency:90}, line:{type:"none"}});

  // Footer
  s.addText("Sources: Harrison's 22E (2025) · Adams & Victor 12E · Campbell's Operative Orthopaedics 15E (2026)", {
    x:0.55,y:5.12,w:9.0,h:0.32, fontSize:9,color:C.gray,fontFace:"Calibri",italic:true
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 2 — FSHD SECTION DIVIDER
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  darkBg(s);
  s.addShape(pres.shapes.RECTANGLE, {x:0,y:0,w:0.18,h:5.625, fill:{color:C.teal}, line:{type:"none"}});

  s.addText("Part 1", {x:0.35,y:0.6,w:4.0,h:0.45, fontSize:18,color:C.teal,fontFace:"Calibri",bold:true});
  s.addText("Facioscapulohumeral\nMuscular Dystrophy", {x:0.35,y:1.1,w:5.5,h:2.0, fontSize:44,bold:true,color:C.white,fontFace:"Calibri",align:"left"});
  s.addText("FSHD1 · FSHD2 · DUX4 · D4Z4", {x:0.35,y:3.2,w:5.5,h:0.5, fontSize:16,color:C.teal,fontFace:"Calibri"});
  s.addShape(pres.shapes.RECTANGLE, {x:0.35,y:3.82,w:5.5,h:0.04, fill:{color:C.teal,transparency:55}, line:{type:"none"}});
  s.addText("Prevalence ~5 / 100,000  ·  3rd most common hereditary myopathy  ·  AD inheritance", {
    x:0.35,y:3.95,w:5.8,h:0.4, fontSize:12,color:C.gray,fontFace:"Calibri",italic:true
  });

  // FSHD patient photo right
  if (imgFSHD_patient) {
    s.addImage({data: imgFSHD_patient, x:6.5,y:0.5,w:3.2,h:4.3, altText:"FSHD patient clinical photo"});
    imgCaption(s, 6.5, 4.82, 3.2, "Clinical photo: lumbar lordosis & scapular winging in FSHD  (Campbell's Orthopaedics 15E)", C.teal);
  }
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 3 — FSHD GENETICS & PATHOGENESIS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "FSHD — Genetics & Pathogenesis", C.teal);

  // FSHD1 card
  card(s, 0.25, 0.85, 4.6, 4.5, "FSHD Type 1  (~95%)  — Autosomal Dominant", C.teal, [
    {text:"Locus: ",options:{bold:true,breakLine:false}},
    {text:"Chromosome 4q35\n",options:{breakLine:true}},
    {text:"Mechanism: ",options:{bold:true,breakLine:false}},
    {text:"Deletion of D4Z4 tandem 3.3-kb repeats\n",options:{breakLine:true}},
    {text:"Result: ",options:{bold:true,breakLine:false}},
    {text:"Repeat array reduced to <35 kb\n",options:{breakLine:true}},
    {text:"Effect: ",options:{bold:true,breakLine:false}},
    {text:"Hypomethylation of 4q35 → DUX4 re-expression\n\n",options:{breakLine:true}},
    {text:"DUX4 ",options:{bold:true,breakLine:false,color:C.teal}},
    {text:"encodes a transcription factor normally silenced after embryonic development. Its re-expression alters downstream gene programs → muscle fiber death.",options:{breakLine:false}},
  ], 11.5);

  // FSHD2 card
  card(s, 5.15, 0.85, 4.6, 4.5, "FSHD Type 2  (~5%)  — No D4Z4 Deletion", C.sky, [
    {text:"No D4Z4 deletion — instead, epigenetic dysregulation\n\n",options:{breakLine:true}},
    {text:"Causative genes:\n",options:{bold:true,breakLine:true}},
    {text:"• SMCHD1 ",options:{bold:true,color:C.sky,breakLine:false}},
    {text:"(most common, AD) — structural maintenance of chromatin\n",options:{breakLine:true}},
    {text:"• DNMT3B ",options:{bold:true,color:C.sky,breakLine:false}},
    {text:"(heterozygous, AD) — DNA methyltransferase\n",options:{breakLine:true}},
    {text:"• LRIF1 ",options:{bold:true,color:C.sky,breakLine:false}},
    {text:"(homozygous, AR) — nuclear receptor interactor\n\n",options:{breakLine:true}},
    {text:"All three normally partner SMCHD1 → maintain D4Z4 methylation\n\n",options:{breakLine:true}},
    {text:"Final pathway: ",options:{bold:true,breakLine:false}},
    {text:"Hypomethylation → DUX4 overexpression → IDENTICAL clinical phenotype to FSHD1",options:{}},
  ], 11.5);

  // Bottom highlight bar
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:5.24,w:9.5,h:0.28, fill:{color:C.teal,transparency:85}, line:{type:"none"}});
  s.addText("KEY: FSHD1 & FSHD2 are clinically and histopathologically IDENTICAL — same DUX4 final mechanism", {
    x:0.25,y:5.24,w:9.5,h:0.28, fontSize:10.5,bold:true,color:C.teal,fontFace:"Calibri",align:"center",valign:"middle",margin:0
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 4 — FSHD CLINICAL FEATURES (with body diagram + patient photo)
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "FSHD — Clinical Features & Weakness Pattern", C.teal);

  // Left: FSHD body diagram
  if (imgFSHD_pattern) {
    s.addImage({data: imgFSHD_pattern, x:0.2,y:0.85,w:2.4,h:4.0, altText:"FSHD muscle weakness distribution"});
    imgCaption(s, 0.2, 4.85, 2.4, "FSHD weakness distribution  (Campbell's 15E)", C.teal);
  }

  // Middle: descending weakness list
  s.addShape(pres.shapes.RECTANGLE, {x:2.8,y:0.85,w:3.8,h:4.5, fill:{color:C.cardBg}, line:{color:C.teal,pt:1.5}, shadow:{type:"outer",color:"000000",blur:6,offset:2,angle:135,opacity:0.2}});
  s.addShape(pres.shapes.RECTANGLE, {x:2.8,y:0.85,w:3.8,h:0.36, fill:{color:C.teal,transparency:12}, line:{type:"none"}});
  s.addText("Descending Weakness Pattern", {x:2.92,y:0.85,w:3.56,h:0.36, fontSize:12.5,bold:true,color:C.white,fontFace:"Calibri",valign:"middle",margin:0});

  const regions = [
    {n:"1. Face",    d:"Cannot smile, whistle, close eyes\nOrbicularis oculi/oris affected\nMasseter, EOM, pharyngeal SPARED"},
    {n:"2. Shoulder",d:"Scapular winging (\"angel-wing\")\nLoss of scapular stabilizers\nBiceps/triceps weak; deltoid spared"},
    {n:"3. Arms",    d:"Wrist extension > wrist flexion"},
    {n:"4. Legs",    d:"Anterior compartment weakness\nFoot drop"},
    {n:"5. Pelvis",  d:"20% of patients → wheelchair"},
  ];
  regions.forEach((r, i) => {
    const y = 1.28 + i * 0.82;
    s.addShape(pres.shapes.OVAL, {x:2.93,y:y+0.06,w:0.3,h:0.3, fill:{color:C.teal,transparency:15}, line:{type:"none"}});
    s.addText(`${i+1}`, {x:2.93,y:y+0.06,w:0.3,h:0.3, fontSize:10,bold:true,color:C.white,align:"center",valign:"middle",fontFace:"Calibri",margin:0});
    s.addText(r.n, {x:3.3,y:y+0.04,w:3.1,h:0.26, fontSize:12,bold:true,color:C.teal,fontFace:"Calibri",valign:"middle",margin:0});
    s.addText(r.d, {x:3.3,y:y+0.3,w:3.1,h:0.47, fontSize:10.2,color:C.lightGray,fontFace:"Calibri",valign:"top",margin:0});
  });

  // Right: Extra-muscular + labs
  card(s, 6.75, 0.85, 3.0, 2.1, "Extra-Muscular", C.sky, [
    {text:"• Sensorineural hearing loss\n",options:{breakLine:true}},
    {text:"• Coats' disease ",options:{bold:true,breakLine:false}},
    {text:"(retinal telangiectasia, detachment)\n",options:{breakLine:true}},
    {text:"• Ventilatory weakness ~5%\n",options:{breakLine:true}},
    {text:"• Heart: SPARED ",options:{bold:true,color:C.teal}},
  ], 11);

  card(s, 6.75, 3.1, 3.0, 2.25, "Labs & Investigations", C.coral, [
    {text:"CK: ",options:{bold:true,breakLine:false}},
    {text:"Normal – mildly elevated\n",options:{breakLine:true}},
    {text:"EMG: ",options:{bold:true,breakLine:false}},
    {text:"Nonspecific myopathic\n",options:{breakLine:true}},
    {text:"Biopsy: ",options:{bold:true,breakLine:false}},
    {text:"May show inflammatory infiltrate → risk of myositis misdiagnosis!\n",options:{breakLine:true}},
    {text:"Genetics: ",options:{bold:true,breakLine:false}},
    {text:"D4Z4 sizing (FSHD1), gene panel (FSHD2)",options:{}},
  ], 10.5);
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 5 — FSHD MANAGEMENT (with scapulothoracic XR)
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "FSHD — Management", C.teal);

  // Left management cards
  card(s, 0.25, 0.85, 4.9, 1.6, "Disease-Modifying Therapy", C.yellow, [
    {text:"No approved disease-modifying therapy currently available.\n",options:{breakLine:true}},
    {text:"Clinical trials ",options:{bold:true,breakLine:false}},
    {text:"targeting DUX4 expression suppression are ongoing (antisense oligonucleotides, gene silencing).",options:{}},
  ], 11.5);

  card(s, 0.25, 2.6, 4.9, 1.6, "Symptomatic & Supportive", C.teal, [
    {text:"• Physical & occupational therapy\n",options:{breakLine:true}},
    {text:"• Ankle-foot orthoses (AFO) ",options:{bold:true,breakLine:false}},
    {text:"for foot drop\n",options:{breakLine:true}},
    {text:"• Respiratory monitoring (spirometry) for the 5% with ventilatory involvement\n",options:{breakLine:true}},
    {text:"• Regular ophthalmic review (Coats' disease)",options:{}},
  ], 11.5);

  card(s, 0.25, 4.35, 4.9, 1.1, "Surgical: Scapulothoracic Fusion", C.coral, [
    {text:"Indicated when shoulder abduction/flexion <90°, scapular winging, or shoulder pain. Deltoid strength ≥ grade 4/5 required. Fusion to 4th–6th ribs with plates/screws or wires.",options:{}},
  ], 11);

  // Right: X-ray image of scapulothoracic arthrodesis
  if (imgXray) {
    s.addShape(pres.shapes.RECTANGLE, {x:5.45,y:0.85,w:4.3,h:3.85, fill:{color:C.cardBg}, line:{color:C.coral,pt:1.5}});
    s.addImage({data: imgXray, x:5.52,y:0.92,w:4.15,h:3.65, altText:"Scapulothoracic arthrodesis X-ray in FSHD"});
    imgCaption(s, 5.45, 4.7, 4.3, "Bilateral scapulothoracic arthrodesis in FSHD patient  (Campbell's Operative Orthopaedics 15E, 2026)", C.coral);
  }

  // Bottom note
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:5.32,w:9.5,h:0.22, fill:{color:C.cardBg}, line:{type:"none"}});
  s.addText("Scapular fixation improves winging, shoulder function, and appearance — benefits maintained long-term even as deltoid weakens", {
    x:0.25,y:5.32,w:9.5,h:0.22, fontSize:9.5,color:C.gray,fontFace:"Calibri",align:"center",italic:true,valign:"middle",margin:0
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 6 — LGMD SECTION DIVIDER
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  darkBg(s);
  s.addShape(pres.shapes.RECTANGLE, {x:0,y:0,w:0.18,h:5.625, fill:{color:C.coral}, line:{type:"none"}});

  s.addText("Part 2", {x:0.35,y:0.6,w:4.0,h:0.45, fontSize:18,color:C.coral,fontFace:"Calibri",bold:true});
  s.addText("Limb-Girdle\nMuscular Dystrophies", {x:0.35,y:1.1,w:5.5,h:2.0, fontSize:44,bold:true,color:C.white,fontFace:"Calibri",align:"left"});
  s.addText("LGMD — Genetically Heterogeneous Proximal Myopathy", {x:0.35,y:3.2,w:5.5,h:0.5, fontSize:15,color:C.coral,fontFace:"Calibri"});
  s.addShape(pres.shapes.RECTANGLE, {x:0.35,y:3.82,w:5.5,h:0.04, fill:{color:C.coral,transparency:55}, line:{type:"none"}});
  s.addText("Prevalence ~1.63 / 100,000  ·  Males = Females  ·  Onset: 1st–4th decade", {
    x:0.35,y:3.95,w:5.8,h:0.4, fontSize:12,color:C.gray,fontFace:"Calibri",italic:true
  });

  // LGMD body diagram
  if (imgLGMD_pattern) {
    s.addImage({data: imgLGMD_pattern, x:6.5,y:0.5,w:3.1,h:4.2, altText:"LGMD weakness pattern"});
    imgCaption(s, 6.5, 4.72, 3.1, "LGMD proximal weakness pattern  (Campbell's Orthopaedics 15E)", C.coral);
  }
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 7 — LGMD CLASSIFICATION & SUBTYPES
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "LGMD — ENMC 2018 Classification & Key Subtypes", C.coral);

  // Left: ENMC criteria + nomenclature
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:0.85,w:3.8,h:2.0, fill:{color:C.cardBg}, line:{color:C.coral,pt:1.5}, shadow:{type:"outer",color:"000000",blur:5,offset:2,angle:135,opacity:0.2}});
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:0.85,w:3.8,h:0.35, fill:{color:C.coral,transparency:12}, line:{type:"none"}});
  s.addText("ENMC 2018 Criteria", {x:0.36,y:0.85,w:3.56,h:0.35, fontSize:12.5,bold:true,color:C.white,fontFace:"Calibri",valign:"middle",margin:0});
  s.addText([
    "• ≥2 unrelated families reported",
    "• Predominantly proximal weakness at onset",
    "• Independent ambulation achieved",
    "• CK elevated  ·  Dystrophic biopsy/imaging",
  ].map((l,i)=>({text:l,options:{breakLine:i<3,fontSize:11.5,color:C.offWhite,fontFace:"Calibri"}})),
  {x:0.36,y:1.24,w:3.56,h:1.52, valign:"top",margin:0});

  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:2.98,w:3.8,h:1.7, fill:{color:C.cardBg}, line:{color:C.sky,pt:1.5}, shadow:{type:"outer",color:"000000",blur:5,offset:2,angle:135,opacity:0.2}});
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:2.98,w:3.8,h:0.35, fill:{color:C.sky,transparency:12}, line:{type:"none"}});
  s.addText("New Nomenclature", {x:0.36,y:2.98,w:3.56,h:0.35, fontSize:12.5,bold:true,color:C.white,fontFace:"Calibri",valign:"middle",margin:0});
  s.addText([
    {text:"LGMDD ",options:{bold:true,color:C.sky,breakLine:false}},
    {text:"= Autosomal Dominant (was LGMD1x)\n",options:{breakLine:true}},
    {text:"LGMDR ",options:{bold:true,color:C.coral,breakLine:false}},
    {text:"= Autosomal Recessive (was LGMD2x)\n\n",options:{breakLine:true}},
    {text:"Laminopathies → reclassified as EDMD\nMyofibrillar myopathies → separate category",options:{}},
  ], {x:0.36,y:3.36,w:3.56,h:1.25, fontSize:11.5, color:C.offWhite, fontFace:"Calibri", valign:"top", margin:0});

  // Important note card
  s.addShape(pres.shapes.RECTANGLE, {x:0.25,y:4.8,w:3.8,h:0.65, fill:{color:C.cardBg}, line:{color:C.yellow,pt:1.5}});
  s.addText([
    {text:"⚠ IMNM PITFALL: ",options:{bold:true,color:C.yellow,breakLine:false}},
    {text:"Screen all suspected LGMD without confirmed mutation for anti-HMGCR & anti-SRP antibodies (treatable!)",options:{color:C.offWhite}},
  ], {x:0.36,y:4.82,w:3.6,h:0.58, fontSize:10.5, fontFace:"Calibri", valign:"middle", margin:0});

  // Right: subtypes table
  const hdr = (t, col) => ({text:t, options:{bold:true,color:C.white,fill:{color:col||C.navyMid},fontSize:11,fontFace:"Calibri",align:"center"}});
  const cel = (t, col, bg) => ({text:t, options:{color:col||C.offWhite,fill:{color:bg||C.cardBg},fontSize:10.5,fontFace:"Calibri"}});
  const eve = (t, col) => cel(t,col,C.navy);

  const tbl = [
    [hdr("Old",C.navyMid), hdr("New",C.navyMid), hdr("Protein",C.navyMid), hdr("Key Feature",C.navyMid)],
    [cel("LGMD2A"), cel("LGMDR1",C.teal), cel("Calpain-3"), cel("Most common; scapular winging; no cardiac/resp")],
    [eve("LGMD2B"), eve("LGMDR2",C.sky), eve("Dysferlin"), eve("Calf-predominant; Miyoshi myopathy overlap")],
    [cel("LGMD2C–F"), cel("LGMDR3–6",C.teal), cel("Sarcoglycans"), cel("Sarcoglycanopathy; may resemble DMD")],
    [eve("LGMD2I"), eve("LGMDR9",C.coral), eve("FKRP"), eve("N. European; calf hypertrophy; cardiac+resp↑")],
    [cel("LGMD2L"), cel("LGMDR12",C.coral), cel("Anoctamin-5"), cel("~7% US LGMD; medial calf atrophy")],
    [eve("LGMD1B"), eve("→ EDMD",C.gray), eve("Lamin A/C"), eve("Reclassified; cardiac conduction defects")],
  ];

  s.addTable(tbl, {
    x:4.25, y:0.85, w:5.5, rowH:0.34,
    border:{pt:0.6,color:"1A3A5C"},
    colW:[1.3,1.2,1.5,2.5],
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 8 — LGMD PROTEIN MAP (full-width image slide)
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  darkBg(s);
  slideHeader(s, "LGMD — Protein Interaction Map (Sarcolemma, Sarcomere, Nucleus)", C.coral);

  if (imgProteins) {
    s.addImage({data: imgProteins, x:0.2,y:0.85,w:9.6,h:4.45, altText:"LGMD protein interaction diagram"});
    imgCaption(s, 0.2, 5.3, 9.6,
      "Sarcolemmal, sarcomeric, nuclear & enzymatic proteins in muscular dystrophies. Dystrophin connects actin cytoskeleton to extracellular matrix. (Harrison's Principles of Internal Medicine 22E, 2025)",
      C.coral);
  }
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 9 — LGMD CLINICAL FEATURES & MANAGEMENT
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "LGMD — Clinical Features, Diagnosis & Management", C.coral);

  card(s, 0.25, 0.85, 4.6, 2.1, "Clinical Features", C.coral, [
    {text:"• Progressive proximal weakness — pelvic + shoulder girdle\n",options:{breakLine:true}},
    {text:"• Males = Females; onset 1st–4th decade\n",options:{breakLine:true}},
    {text:"• Often indistinguishable from DMD/BMD clinically\n",options:{breakLine:true}},
    {text:"• Cardiomyopathy ",options:{bold:true,breakLine:false}},
    {text:"(LGMDR9, laminopathies)  +  ",options:{breakLine:false}},
    {text:"Respiratory insufficiency ",options:{bold:true,breakLine:false}},
    {text:"— variable by subtype\n",options:{breakLine:true}},
    {text:"• CK: markedly elevated  ·  EMG: myopathic",options:{}},
  ], 11);

  card(s, 5.1, 0.85, 4.6, 2.1, "Investigations & Diagnosis", C.sky, [
    {text:"• Serum CK: markedly elevated (often 10–50× ULN)\n",options:{breakLine:true}},
    {text:"• EMG: myopathic\n",options:{breakLine:true}},
    {text:"• Muscle biopsy + IHC: ",options:{bold:true,breakLine:false}},
    {text:"sarcoglycans, dysferlin, α-dystroglycan\n",options:{breakLine:true}},
    {text:"• Definitive: ",options:{bold:true,breakLine:false}},
    {text:"Next-generation sequencing (NGS) panel\n",options:{breakLine:true}},
    {text:"• Screen anti-HMGCR + anti-SRP ",options:{bold:true,color:C.yellow,breakLine:false}},
    {text:"if no mutation found",options:{}},
  ], 11);

  card(s, 0.25, 3.1, 4.6, 2.35, "Management", C.teal, [
    {text:"Most subtypes: ",options:{bold:true,breakLine:false}},
    {text:"No approved disease-modifying therapy\n\n",options:{breakLine:true}},
    {text:"EXCEPTION — Pompe disease (LGMDR22/acid maltase deficiency):\n",options:{bold:true,color:C.yellow,breakLine:true}},
    {text:"Enzyme Replacement Therapy ",options:{bold:true,breakLine:false}},
    {text:"(alglucosidase alfa) — the only LGMD with approved ERT\n\n",options:{breakLine:true}},
    {text:"• PT / respiratory support (NIV)\n",options:{breakLine:true}},
    {text:"• Cardiac: ACE-I + β-blocker for cardiomyopathy\n",options:{breakLine:true}},
    {text:"• Regular cardiac monitoring in LGMDR9, laminopathies, sarcoglycanopathies",options:{}},
  ], 11);

  // Scapular winging note + comparison
  card(s, 5.1, 3.1, 4.6, 2.35, "Calpainopathy (LGMDR1) — Special Notes", C.yellow, [
    {text:"Most common LGMD worldwide; highest prevalence in S. Europe\n",options:{breakLine:true}},
    {text:"• Marked scapular winging ",options:{bold:true,breakLine:false}},
    {text:"(medial border juts backward — different pattern from FSHD)\n",options:{breakLine:true}},
    {text:"• Posterior thigh + adductors > knee extensors\n",options:{breakLine:true}},
    {text:"• Rectus abdominis early → abdominal hernias\n",options:{breakLine:true}},
    {text:"• Cardiac and lung involvement: ",options:{bold:true,breakLine:false}},
    {text:"SPARED\n",options:{breakLine:true}},
    {text:"• Biopsy: eosinophilic infiltrate → risk of misdiagnosis as eosinophilic myositis",options:{}},
  ], 10.5);
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 10 — COMPARISON TABLE
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "FSHD vs LGMD — Side-by-Side Comparison", C.sky);

  const H = (t, col) => ({text:t, options:{bold:true,color:C.white,fill:{color:col},fontSize:12,fontFace:"Calibri",align:"center"}});
  const R = (t, col, bg, bld) => ({text:t, options:{color:col||C.offWhite,fill:{color:bg||C.cardBg},fontSize:11,fontFace:"Calibri",bold:!!bld}});
  const E = (t, col) => R(t,col,C.navy);

  const data = [
    [ H("Feature",C.navyMid),       H("FSHD",C.tealDark),                              H("LGMD","993333")            ],
    [ R("Weakness Pattern"),         R("Facial → scapulohumeral → distal",C.teal,C.cardBg,true), R("Proximal pelvic + shoulder girdle",C.coral,C.cardBg,true) ],
    [ E("Inheritance"),              E("Autosomal Dominant",C.sky),                     E("AD (LGMDD) or AR (LGMDR); AR more common") ],
    [ R("Genetics"),                 R("D4Z4 deletion 4q35 (FSHD1)\nSMCHD1/DNMT3B/LRIF1 (FSHD2)"), R("Heterogeneous: calpain-3, dysferlin,\nsarcoglycans, FKRP, anoctamin-5…") ],
    [ E("Facial Weakness"),          E("YES — hallmark",C.teal),                        E("NO — face spared") ],
    [ R("Cardiac Involvement"),      R("Typically SPARED",C.teal),                      R("Yes in LGMDR9, laminopathies") ],
    [ E("Respiratory"),              E("~5% affected"),                                 E("Variable; prominent in some subtypes") ],
    [ R("Serum CK"),                 R("Normal – mildly elevated"),                     R("Markedly elevated (10–50×)") ],
    [ E("Hearing Loss"),             E("Yes — sensorineural",C.sky),                    E("No") ],
    [ R("Coats' Disease"),           R("Yes — retinal involvement"),                    R("No") ],
    [ E("Disease-Modifying Rx"),     E("None (DUX4 trials ongoing)"),                   E("ERT for Pompe; none for others") ],
    [ R("Scapular Winging"),         R("Early, prominent",C.teal),                      R("Present in LGMDR1 (calpainopathy)") ],
  ];

  s.addTable(data, {
    x:0.25,y:0.85,w:9.5, rowH:0.37,
    border:{pt:0.5,color:"1A3A5C"},
    colW:[2.5,3.5,3.5],
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 11 — HIGH-YIELD PEARLS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  midBg(s);
  slideHeader(s, "High-Yield Clinical Pearls", C.yellow);

  const pearls = [
    {c:C.teal, tag:"FSHD",   text:"FSHD1 (D4Z4 deletion) and FSHD2 (SMCHD1/DNMT3B/LRIF1 mutations) share identical clinical and histopathological features — both cause DUX4 re-expression via hypomethylation."},
    {c:C.coral, tag:"FSHD",  text:"Muscle biopsy in FSHD may show prominent inflammatory infiltrate — easily misdiagnosed as myositis. Always confirm with genetic testing."},
    {c:C.sky, tag:"LGMD",    text:"IMNM (immune-mediated necrotizing myopathy) is clinically and histologically indistinguishable from LGMD. Screen anti-HMGCR & anti-SRP in all suspected LGMD without confirmed mutation."},
    {c:C.yellow, tag:"LGMD", text:"Pompe disease (LGMDR22, acid maltase deficiency) is the ONLY LGMD subtype with an approved disease-modifying therapy — enzyme replacement therapy (alglucosidase alfa)."},
    {c:C.teal, tag:"FSHD",   text:"FSHD characteristically spares the heart — cardiac involvement should prompt reconsideration of the diagnosis (consider EDMD, sarcoglycanopathy, FKRP deficiency)."},
    {c:C.coral, tag:"LGMD",  text:"LGMDR9 (FKRP) causes calf hypertrophy and has cardiac + respiratory involvement out of proportion to extremity weakness — resembles dystrophinopathy clinically."},
  ];

  pearls.forEach((p, i) => {
    const col = i % 2;
    const row = Math.floor(i / 2);
    const x = col === 0 ? 0.25 : 5.12;
    const y = 0.88 + row * 1.52;

    s.addShape(pres.shapes.RECTANGLE, {x,y,w:4.65,h:1.38, fill:{color:C.cardBg}, line:{color:p.c,pt:1.5}, shadow:{type:"outer",color:"000000",blur:5,offset:2,angle:135,opacity:0.2}});
    s.addShape(pres.shapes.RECTANGLE, {x,y,w:0.12,h:1.38, fill:{color:p.c}, line:{type:"none"}});
    s.addShape(pres.shapes.ROUNDED_RECTANGLE, {x:x+0.18,y:y+0.07,w:0.9,h:0.28, fill:{color:p.c,transparency:18}, line:{type:"none"}, rectRadius:0.07});
    s.addText(p.tag, {x:x+0.18,y:y+0.07,w:0.9,h:0.28, fontSize:10,bold:true,color:C.white,fontFace:"Calibri",align:"center",valign:"middle",margin:0});
    s.addText(p.text, {x:x+0.18,y:y+0.4,w:4.35,h:0.92, fontSize:11,color:C.offWhite,fontFace:"Calibri",valign:"top",margin:0});
  });
}

// ═══════════════════════════════════════════════════════════════════
// SLIDE 12 — CLOSING / KEY TAKEAWAYS
// ═══════════════════════════════════════════════════════════════════
{
  const s = pres.addSlide();
  darkBg(s);

  s.addShape(pres.shapes.RECTANGLE, {x:0,y:0,w:10,h:0.18, fill:{color:C.teal}, line:{type:"none"}});
  s.addShape(pres.shapes.RECTANGLE, {x:0,y:5.44,w:10,h:0.18, fill:{color:C.coral}, line:{type:"none"}});

  // Decorative circles
  s.addShape(pres.shapes.OVAL, {x:7.8,y:0.4,w:2.8,h:2.8, fill:{color:C.teal,transparency:92}, line:{type:"none"}});
  s.addShape(pres.shapes.OVAL, {x:-0.3,y:2.8,w:2.4,h:2.4, fill:{color:C.coral,transparency:92}, line:{type:"none"}});

  s.addText("Key Takeaways", {x:1,y:0.3,w:8,h:0.7, fontSize:34,bold:true,color:C.white,fontFace:"Calibri",align:"center"});

  // Side-by-side body diagrams (small)
  if (imgFSHD_pattern) s.addImage({data:imgFSHD_pattern, x:7.5,y:1.0,w:1.2,h:2.0, altText:"FSHD pattern", transparency:30});
  if (imgLGMD_pattern) s.addImage({data:imgLGMD_pattern, x:8.8,y:1.0,w:1.1,h:2.0, altText:"LGMD pattern", transparency:30});

  const takes = [
    {c:C.teal,   t:"FSHD: DUX4 reactivation via D4Z4 hypomethylation → facial + scapulohumeral weakness descending pattern; heart spared"},
    {c:C.coral,  t:"LGMD: Genetically heterogeneous group; new ENMC nomenclature uses LGMDD (dominant) / LGMDR (recessive) + number"},
    {c:C.sky,    t:"Both FSHD & calpainopathy (LGMDR1) can show scapular winging — but patterns differ; FSHD also has facial weakness"},
    {c:C.yellow, t:"Always screen suspected LGMD without confirmed mutation for IMNM; Pompe disease is the only LGMD with approved ERT"},
  ];

  takes.forEach((t, i) => {
    const y = 1.1 + i * 0.98;
    s.addShape(pres.shapes.RECTANGLE, {x:0.5,y,w:6.8,h:0.82, fill:{color:C.cardBg}, line:{color:t.c,pt:1.5}, shadow:{type:"outer",color:"000000",blur:5,offset:2,angle:135,opacity:0.2}});
    s.addShape(pres.shapes.OVAL, {x:0.62,y:y+0.2,w:0.38,h:0.38, fill:{color:t.c}, line:{type:"none"}});
    s.addText(`${i+1}`, {x:0.62,y:y+0.2,w:0.38,h:0.38, fontSize:11,bold:true,color:C.navyDark,align:"center",valign:"middle",fontFace:"Calibri",margin:0});
    s.addText(t.t, {x:1.1,y:y+0.1,w:5.95,h:0.6, fontSize:11.5,color:C.offWhite,fontFace:"Calibri",valign:"middle",margin:0});
  });

  s.addText("Sources: Harrison's Principles of Internal Medicine 22E (2025)  ·  Adams & Victor's Neurology 12E  ·  Campbell's Operative Orthopaedics 15E (2026)  ·  Bradley & Daroff Neurology  ·  ENMC 2018", {
    x:0.5,y:5.22,w:9.0,h:0.28, fontSize:8.5,color:C.gray,fontFace:"Calibri",align:"center",italic:true
  });
}

// ─── WRITE ────────────────────────────────────────────────────────
pres.writeFile({fileName:"/home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD_with_images.pptx"})
  .then(()=>console.log("Done"))
  .catch(e=>{console.error(e);process.exit(1);});

Running Command

cd /home/daytona/workspace/fshd-lgmd-ppt && node generate_with_images.js 2>&1

Running Command

ls -lh /home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD_with_images.pptx

Your image-rich presentation is ready!

FSHD LGMD with images

Presentation · PPTX

What's in it (12 slides with real textbook images):

Slide	Content	Images
1	Title slide	FSHD & LGMD body weakness diagrams side-by-side
2	FSHD section divider	Clinical patient photo (scapular winging + lumbar lordosis)
3	FSHD Genetics — FSHD1 vs FSHD2, DUX4 mechanism	—
4	FSHD Clinical features — descending weakness pattern	FSHD muscle distribution diagram
5	FSHD Management — surgery, PT, AFO	Bilateral scapulothoracic arthrodesis X-ray
6	LGMD section divider	LGMD proximal weakness body diagram
7	LGMD ENMC 2018 classification + subtypes table	—
8	LGMD Protein Map (full-width)	Full Harrison's protein interaction diagram (sarcolemma, sarcomere, nucleus)
9	LGMD Clinical features, diagnosis, Pompe ERT	—
10	FSHD vs LGMD comparison table	—
11	6 high-yield clinical pearls	—
12	Key takeaways closing slide	Faint overlay of both body diagrams

All images are sourced directly from Harrison's 22E (2025) and Campbell's Operative Orthopaedics 15E (2026).

I’m not able to download the ppt

Running Command

ls -lh /home/daytona/workspace/fshd-lgmd-ppt/ && echo "---" && ls -lh /home/daytona/workspace/

Running Command

cp /home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD_with_images.pptx /home/daytona/workspace/FSHD_LGMD_with_images.pptx && cp /home/daytona/workspace/fshd-lgmd-ppt/FSHD_LGMD.pptx /home/daytona/workspace/FSHD_LGMD.pptx && ls -lh /home/daytona/workspace/*.pptx

Try these direct links — I've moved both files to the workspace root:

With images (21 MB):

FSHD LGMD with images

Presentation · PPTX

Without images (smaller, 331 KB) — if the above is too large:

FSHD LGMD

Presentation · PPTX

If the links still don't work, here are a few things to try:

Right-click the link → "Save link as..." instead of left-clicking
The image version is 21 MB — if your connection is slow, try the smaller version first
If you're on a mobile device, try on a desktop browser instead

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