Charcot-Marie-Tooth disease type 2S

Orpha code: 443073OMIM code: 616155

Definition

A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.

Disease data
Classification

Disease

Synonyms
CMT2S
CMT2S
ORPHA code
443073
OMIM code
616155
ICD10 code
G60.0
ICD11 code
-

No additional description.

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