Autosomal dominant Charcot-Marie-Tooth disease type 2B

Orpha code: 99936OMIM code: 600882

Definicja

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

Disease data
Klasyfikacja

Disease

Synonimy
CMT2B
CMT2B
Kod ORPHA
99936
Kod OMIM
600882
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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