Give me a picture of myotonic dystrophy patient relevant to ddx
Reading File
Searching the Web
myotonic dystrophy patient clinical features photograph facial appearance ddx
Loading Image
Loading Image
Finding Sources
Reading File
Reading File
Finding Sources
Reading File
Finding Sources
Reading File
Reading File
Loading Image
Loading Image
Loading Image
Three excellent textbook images retrieved. Here is the complete clinical breakdown:
Myotonic Dystrophy (DM1) - Clinical Images for DDx
Image 1 - DDx Comparison: FSH Dystrophy (A) vs. Myotonic Dystrophy (B)
Fig. 28.9 - Bradley and Daroff's Neurology in Clinical Practice
- Panel A (left): Patient with facioscapulohumeral (FSH) dystrophy - unable to purse the lips when attempting to whistle; note the preserved temporalis bulk
- Panel B (right): Patient with myotonic dystrophy type 1 - note the classic triad:
- Frontal balding
- Temporalis + masseter wasting (hollowed temples)
- Ptosis + facial weakness (long, expressionless face)
Images 2 & 3 - DM1 Type 1 (58-year-old man) - Pathognomonic Features
From Goldman-Cecil Medicine - 58-year-old man with DM1:
- Panel A: Frontal balding, bilateral ptosis, temporal muscle atrophy - "hatchet face" appearance
- Panel B: Forced eye closure - note the inability to bury the eyelashes (orbicularis oculi weakness), a sign of orbicularis weakness distinct from facioscapulohumeral dystrophy where orbicularis is equally or more severely affected
DDx Key Distinguishing Features at a Glance
| Feature | Myotonic Dystrophy (DM1) | FSH Dystrophy | Oculopharyngeal Dystrophy | Mitochondrial Myopathy (CPEO) |
|---|---|---|---|---|
| Ptosis | Yes (bilateral, mild-mod) | Rare | Yes | Prominent |
| Facial weakness | Yes (bifacial, expressionless) | Yes (lip/orbicularis prominent, asymmetric) | Mild | Mild |
| Temporal wasting | Yes (hallmark) | Absent | Absent | Variable |
| Frontal balding | Yes (men) | No | No | No |
| Myotonia (grip/percussion) | Yes - pathognomonic | No | No | No |
| Distal > proximal weakness | Yes | No | No | No |
| Cataracts | Yes (posterior subcapsular) | No | No | Yes |
| Cardiac involvement | Yes (conduction defects) | Sometimes | Rare | Yes |
| Genetics | CTG repeat, chr 19 (DM1) | D4Z4 deletion, chr 4q35 | PABPN1, chr 14 | mtDNA/nuclear |
The combination of frontal balding + hatchet face + grip myotonia + distal weakness in an adult is essentially pathognomonic for DM1. No other muscular dystrophy shares this full constellation. The facial features alone - as shown in the images above - are often sufficient for clinical diagnosis before EMG or genetic testing.
Sources: - Bradley and Daroff's Neurology in Clinical Practice, p. 501 | - Goldman-Cecil Medicine, p. 3797
This is a shared conversation. Sign in to Orris to start your own chat.