Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C (CMT4C) is a form of Charcot-Marie-Tooth disease that usually begins in childhood or adolescence. It is characterized by a demyelinating sensorimotor neuropathy that is relatively mild compared to other forms of the condition. In many people, this means there is a slow loss of muscle strength and some sensory difficulties, particularly in the limbs. In addition to these signs, some individuals may experience a severe and rapidly progressing curvature of the spine (scoliosis) during early development. There has also been observation of a range of nerve conduction speeds, and in some cases, cranial nerve involvement or changes in the natural curvature of the spine (kyphoscoliosis) have been reported. This variability shows the wide spectrum of how the condition can present in different people.

Common signs in people with CMT4C include muscle weakness and atrophy in the distal parts of the arms and legs. Sensory loss, especially in the feet and hands, is often seen and foot deformities may also develop. Nerve conduction tests can show a wide range of speeds, reflecting the demyelinating nature of the neuropathy. In some cases, there may be involvement of cranial nerves and spinal deformities such as kyphoscoliosis.

Charcot-Marie-Tooth disease type 4C is caused by changes or mutations in the SH3TC2 gene. This gene alteration affects the normal functioning of the nerves, leading to the demyelinating neuropathy observed in the disease. The condition is inherited in an autosomal recessive manner, meaning a person needs to inherit two copies of the mutated gene to develop the disease.

Information about treatment options and management approaches 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.