Charcot-Marie-Tooth disease recessive intermediate A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a genetic disorder that affects the peripheral nerves. It typically begins in early childhood and is known for causing a severe form of neuropathy. People with this condition may experience difficulties with motor functions due to the nerve damage affecting both the nerve fibers (axonal changes) and the protective myelin sheath (demyelinating changes). In addition to nerve damage, a prominent foot deformity known as pes equinovarus (where the foot turns inward) and impairment of hand muscles are common features. Nerve conduction tests often show speeds between 25-35 m/s, reflecting the mixed nature of the nerve involvement.

People with this condition commonly experience an early childhood onset of severe neuropathy. The symptoms include difficulties with walking due to the pes equinovarus foot deformity and problems with hand strength and dexterity. Nerve conduction studies typically show slowed nerve responses.

This condition is caused by changes in the GDAP1 gene and follows an autosomal recessive pattern, which means that an affected person must inherit two copies of the faulty gene, one from each parent. These genetic changes lead to problems in the structure and function of the peripheral nerves.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.