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Charcot-Marie-Tooth Disease (CMTD)

Types

  • Type 1 (60%) – CMT1 mutation (Demyelinating)

  • Type 2 (30%) – CMT2 mutation (Axonal)

  • Mixed (10%)

Presentation

The disease is length-dependent, therefore it usually presents during puberty. Clinical features include:

  • Slowly progressive distal symmetrical sensorimotor polyneuropathy

  • Symmetrical, distal muscular atrophy (champagne bottle legs, claw hand)

  • Pes cavus (club foot)

  • Reduced reflexes and tone

“The foot of a person with Charcot-Marie-Tooth. The lack of muscle, high arch, and hammer toes are signs of the genetic disease. This patient was diagnosed with CMT-1A.” © Benefros CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/)

Investigations

NCS - Depends on the type of CMT mutation:

  • Demyelinating (T1) – ↓nerve conduction velocity

  • Axonal (T2) – ↓action potential amplitude


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