Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 is a rare inherited condition that starts in early childhood. It is characterized by a severe demyelinating sensorimotor neuropathy, which affects the way nerves send signals to muscles and other parts of the body. This condition also features early-onset glaucoma and visual problems, along with noticeable effects on the muscles and sensory nerves. People with this condition often experience distal muscle weakness and atrophy, sensory loss, and a high-arched foot (pes cavus). The nerve conduction is severely reduced, and there are specific changes in the myelin of the nerves, which support the typical Charcot-Marie-Tooth phenotype.

Common symptoms in people with this condition include weakness and wasting of muscles, especially in the legs and hands, loss of sensation, and high-arched feet (pes cavus). They may also experience severe visual impairment due to early-onset glaucoma.

Charcot-Marie-Tooth disease type 4B2 is caused by mutations in the SBF2 gene. This genetic change affects the production of proteins important for the normal function of the nerves. It is inherited in an autosomal recessive manner, which means that a child would need to inherit the faulty gene from both parents to develop the condition.

Information about treatment 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.