/Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4A

Rare Disease

MONDO:0008961

Also Known As

CMT4ACharcot-Marie-Tooth disease type 4 caused by mutation in GDAP1Charcot-Marie-Tooth neuropathy type 4AGDAP1 Charcot-Marie-Tooth disease type 4autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4ACharcot Marie Tooth disease type 4ACharcot-Marie-Tooth disease, demyelinating, autosomal recessiveCharcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4ACharcot-Marie-Tooth disease, type 4ACharcot-Marie-Tooth neuropathy, type 4A

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.