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Essential Tremor - 5 Mark MBBS Answer
Quick Memory Hook
"ACTION tremor, AUTOSOMAL dominant, ALCOHOL relieves, propRANOLOL treats"
Definition
Essential tremor (ET) is the most common movement disorder, characterised by a rhythmic, involuntary oscillatory movement that appears during voluntary action or posture (action/postural tremor), with no other neurological signs. It is also called benign essential tremor or familial tremor, though it is not always benign.
Epidemiology
- Affects ~1% of the general population, rising to 5% over age 60
- Bimodal age of onset: late 2nd decade (young adults) and again after 35-40 years
- Both sexes equally affected
- Adams & Victor's Principles of Neurology, 12th Ed.
Etiology / Genetics
| Feature | Detail |
|---|
| Inheritance | Autosomal dominant, high penetrance |
| Positive family history | ~50% of patients |
| Gene | No single confirmed gene; NOTCH2NLC GGC repeat expansion associated |
| Pathology | Decreased cerebellar Purkinje cells, axonal torpedoes (controversial) |
Pathophysiology (Simple Understanding)
Think of the cerebellum and inferior olive as a "tremor pacemaker":
- Normally the olivocerebellar circuit helps smooth out movements
- In ET, this circuit oscillates in an uncontrolled rhythmic way
- The result: the brain sends repetitive signals to muscles during movement = tremor
- Cerebellum is hyperactivated (seen on functional imaging)
- Thalamus (VIM nucleus) acts as a relay amplifying the tremor signal
Simple analogy: Like a ceiling fan that wobbles because the motor (cerebellum) is slightly off-balance - the wobble gets worse the more power (activity/stress) you apply.
Clinical Features
Classic Triad (easy to remember: HANDS - HEAD - VOICE)
| Feature | Detail |
|---|
| Tremor type | Postural + kinetic (action) tremor; NOT resting tremor |
| Frequency | 4-10 Hz (typically 6-8 Hz) |
| Hands | Most common - both hands, may start asymmetrically in dominant hand |
| Head | ~30% - side-to-side ("no-no") or up-down ("yes-yes") nodding |
| Voice | ~20% - quavering, tremulous speech |
| Jaw/tongue | ~10-20% |
| Legs | Usually spared |
Key Triggers / Relievers
| Worsened by | Relieved by |
|---|
| Stress, anxiety, emotion | Rest / sleep |
| Fatigue, exercise | Small amount of alcohol (>75% patients) |
| Caffeine | Beta-blockers |
| Hyperthyroid state | Primidone |
Important Points
- Tremor disappears at rest (key difference from Parkinson's)
- Head tremor disappears when head is supported
- Handwriting: large, shaky letters (vs. micrographia in Parkinson's)
- Neurological exam is otherwise normal
Diagnosis
ET is a clinical diagnosis - no specific test required.
Diagnostic Criteria (simple version)
- Bilateral postural/action tremor of hands/forearms
- May involve head, voice
- No other neurological signs (no rigidity, no bradykinesia)
- Not caused by drugs, metabolic disease, or other structural cause
Key Investigations to exclude mimics
- TFTs (thyroid function) - to rule out hyperthyroidism
- Serum copper/ceruloplasmin - to rule out Wilson's disease (in young patients)
- MRI brain - if atypical features
- DaTscan - if Parkinson's disease is suspected
Differential Diagnosis
| Feature | Essential Tremor | Parkinson's Disease |
|---|
| Tremor type | Action/postural | Resting (pill-rolling) |
| Frequency | 6-10 Hz | 4-6 Hz |
| Relieved by | Alcohol | Movement |
| Family history | Common | Less common |
| Bradykinesia | Absent | Present |
| Rigidity | Absent | Cogwheel rigidity |
| Handwriting | Large, shaky | Micrographia |
| Alcohol response | Improves | No change |
Treatment
Step 1 - Reassurance (mild cases)
Most mild cases need no medication - just reassurance that it is benign.
Step 2 - Medical Treatment
| Drug | Dose | Notes |
|---|
| Propranolol (1st line) | 20-120 mg/day divided doses | Beta-blocker; avoid in asthma/bradycardia; hand tremor responds best |
| Primidone (1st line) | Start 12.5 mg, up to 250 mg TDS | Barbiturate; start low to avoid sedation/nausea |
| Gabapentin | Second-line | Adjunct |
| Topiramate | Second-line | Adjunct |
| Botulinum toxin | Injection | Useful for voice or limb tremor; risk of weakness |
Both propranolol and primidone are effective in ~50% of patients.
Step 3 - Surgical (refractory cases)
| Procedure | Target | Notes |
|---|
| Deep Brain Stimulation (DBS) | VIM nucleus of thalamus | Most effective surgical option |
| Thalamotomy | VIM nucleus | Older procedure |
| Focused Ultrasound (MRgFUS) | VIM nucleus | Non-invasive; newer, effective |
- Harrison's 22E; Adams & Victor 12th Ed.
Summary Box (for quick revision)
| Point | Value |
|---|
| Most common movement disorder | Yes |
| Tremor type | Postural + Action |
| Frequency | 4-10 Hz |
| Inheritance | Autosomal dominant |
| Pathology | Cerebellum / olivocerebellar circuit |
| Key relieved by | Alcohol |
| 1st line drugs | Propranolol, Primidone |
| Surgery target | VIM nucleus of thalamus |
Exam Tip - How to Write a 5-Mark Answer
Structure your answer with these 5 headings (1 mark each):
- Definition + Epidemiology
- Clinical Features (tremor type, body parts, triggers)
- Diagnosis + Differential Diagnosis (ET vs Parkinson's table)
- Treatment (propranolol, primidone, DBS)
- Pathophysiology (cerebellum/olivocerebellar circuit)
Sources: Harrison's Principles of Internal Medicine 22E | Adams and Victor's Principles of Neurology, 12th Ed. | Goldman-Cecil Medicine