Charcot-Marie-Tooth disease type 4A

Orpha code: 99948OMIM code: 214400

Definition

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.

Disease data
Classification

Disease

Synonyms
CMT4A
CMT4A
ORPHA code
99948
OMIM code
214400
ICD10 code
G60.0
ICD11 code
-

No additional description.

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