Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease that begins in infancy or early childhood. It is known for a severe, rapidly progressing form of sensorimotor neuropathy that mainly affects the lower legs at first and may later affect the arms. People with this condition typically show signs of muscle weakness and atrophy, especially in the feet and lower legs, and often experience skeletal deformities. They may also have delayed motor development, vocal cord issues, and changes in nerve conduction, reflecting the complex nature of the disease.

Common symptoms include distal muscle weakness and atrophy, sensory loss, and foot deformities such as pes cavus. Other signs can include delayed motor milestones, vocal cord paresis, reduced reflexes, and various skeletal deformities. Nerve conduction studies may show a range of results from very slow to normal speeds.

CMT4A is caused by changes (mutations) in the GDAP1 gene. These genetic alterations affect the normal functioning of nerves, leading to the development of various neurological symptoms. The condition follows an autosomal recessive pattern of inheritance.

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