Charcot-Marie-Tooth disease X-linked recessive 4

X-linked Charcot-Marie-Tooth disease type 4 is a rare genetic disorder that affects the peripheral nerves. It follows an X-linked recessive inheritance pattern, meaning that males typically show the symptoms while females are usually unaffected. The condition starts in neonatal or early childhood stages and is characterized by progressive muscle weakness and atrophy, particularly in the muscles of the lower legs. People with this condition also experience sensory impairments that affect the legs more than the arms. Other common features include foot deformities such as high arches (pes cavus), hammertoes, and reduced reflexes. Some individuals may also have sensorineural hearing loss and cognitive difficulties.

Common symptoms include severe, slowly progressive, distal muscle weakness and atrophy, especially in the peroneal group of muscles in the lower legs. Sensory impairments, particularly in the lower limbs, are frequent. In addition, foot deformities such as high arches (pes cavus) and hammertoes, along with a lack of reflexes (areflexia), are often observed. Some cases may also include sensorineural hearing loss and cognitive impairment.

This condition is caused by mutations in the AIFM1 gene and follows an X-linked recessive inheritance pattern. This means that the mutation is passed down on the X chromosome, and typically, males are affected while females remain asymptomatic. The genetic change interferes with the normal function of peripheral nerves, leading to both motor and sensory symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.