Charcot-Marie-Tooth disease recessive intermediate C

Charcot-Marie-Tooth disease recessive intermediate C is a rare inherited nerve disorder. It is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth disease. The condition typically starts in childhood to adulthood and can lead to progressive weakness and loss of muscle size, especially in the lower legs. Foot deformities, such as high arches (pes cavus) and hammer toes, are common alongside changes in nerve function.

People with this condition often experience moderate to severe muscle weakness and atrophy, primarily in the lower limbs. They may develop foot deformities like pes cavus and hammer toes. Other symptoms include absent deep tendon reflexes and reduced sensation in the distal parts of the limbs. Nerve tests show decreased motor and sensory conduction, and features of both demyelinating and axonal damage can be seen on a sural nerve biopsy.

This condition is caused by a genetic mutation in the PLEKHG5 gene. It follows an autosomal recessive inheritance pattern, meaning a person needs to inherit two copies of the faulty gene to manifest the disease.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.