FFinalistSouthampton · 2027
Neurology
AKT · Neurology/Cord & peripherallow yield

Charcot-Marie-Tooth disease

Inherited (usually AD) peripheral neuropathy (hereditary motor & sensory neuropathy)

Overview

The commonest inherited peripheral neuropathy (hereditary motor and sensory neuropathy), usually autosomal dominant (PMP22 duplication in CMT1A). A slowly progressive, length-dependent motor-predominant neuropathy producing the classic distal wasting, pes cavus and an "inverted champagne bottle"/stork-leg appearance.

Recognise

  • Distal symmetrical wasting and weakness starting in the feet/legs → "inverted champagne bottle"/stork legs; later the hands (claw)
  • PES CAVUS (high arches) and hammer toes; foot drop with a high-stepping gait; areflexia and reduced distal sensation
  • Slowly progressive from childhood/adolescence; positive family history; palpably thickened nerves in some

Red flags

  • Marked disability/foot deformity; respiratory or vocal-cord involvement in some subtypes

Differentials & how to tell them apart

Chronic inflammatory demyelinating polyneuropathy (CIDP)acquired, treatable with immunotherapy, more rapid/relapsing — CMT is inherited and very slowly progressive with pes cavus and family history
Friedreich ataxiaataxia + pes cavus but with cerebellar/dorsal-column signs and cardiomyopathy
Diabetic/other acquired neuropathyidentifiable cause, no lifelong/familial pes cavus

Investigations

Nerve conduction studies (demyelinating with slow conduction in CMT1, or axonal in CMT2); genetic testing (PMP22 etc.); family history/examination.

Management

Supportive — physiotherapy, orthotics, podiatry and OT (no disease-modifying drug)

  1. 1Confirm with nerve conduction studies + genetics; manage SUPPORTIVELY with physiotherapy, ankle-foot orthoses, podiatry and occupational therapy — there is no disease-modifying drug.Gate: Distinguish CMT (INHERITED, very slowly progressive, pes cavus, family history) from CIDP (ACQUIRED and IMMUNE-TREATABLE) — mislabelling a treatable CIDP as untreatable CMT denies effective immunotherapy
  2. 2Corrective foot surgery for fixed deformity; genetic counselling; avoid neurotoxic drugs (e.g. vincristine); MDT (neurology, physio, orthotics).
No disease-modifying drug — management is supportive
Physiotherapy, orthotics (ankle-foot orthoses), podiatry — maintain mobility, manage foot drop/deformity
Occupational therapy ± corrective foot surgery — for function and deformity

Key points

Pes cavus + stork/champagne-bottle legs + foot drop + family history = CMT. The key contrast is the treatable acquired mimic CIDP. Avoid neurotoxic drugs.

Monitor & prognosis

Mobility, deformity, function; genetic counselling.

Slowly progressive; most retain walking with orthotic support.

Source: ABN; StatPearls