Description

The Charcot-Marie-Tooth polyneuropathy syndrome is a hereditary polyneuropathy affecting the distal extremities with on onset from infancy to young adult.


 

Inheritance: autosomal dominant

 

Types:

(1) CMT1: demyelinating, with earlier age of onset

(2) CMT2: axonal

 

Physical findings in the feet and lower legs:

(1) pes cavus (high longitudinal arch), pes planus (flat foot), equinovarus, or other foot deformity

(2) claw (hammer) toes

(3) peroneal muscle atrophy (over the distal fibulae)

(4) slowly progressive distal muscle weakness

(5) tight Achilles tendon

(6) restless leg syndrome in about a third of patients with CMT2 form

 

Changes to the gait:

(1) steppage gait

(2) toe walking

(3) unable to walk on the heels

(4) loss of balance

(5) frequent tripping

 

Physical findings in the hands:

(1) difficulty with fine finger movements

(2) tremor in about a third of patients

(3) slowly progressive distal muscle weakness

(4) atrophy of intrinsic hand muscles

(5) claw hand deformity

 

Neurologic changes:

(1) absent or diminished deep tendon reflexes in the upper and lower extremities

(2) thickened nerves in some patients with CMT1 form

(3) cold intolerance

(4) decreased vibratory sense in the extremities

 


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