Charcot-Marie-Tooth disease X-linked recessive 2

X-linked Charcot-Marie-Tooth disease type 2 is a rare genetic condition that affects the peripheral nerves. It is characterized by a progressive loss of muscle strength and muscle wasting, especially in the lower legs. The condition usually begins in infancy or childhood and causes changes in muscle tone, such as high-arched feet (pes cavus) and reduced or absent tendon reflexes. Some people with this condition may also experience sensory changes and, in some cases, intellectual disability. The disease follows an X-linked recessive inheritance pattern, meaning it is passed down through the X chromosome. This summary is based on information from trusted sources including the provided definition and other referenced databases.

Common features include progressive muscle weakness and atrophy, which tend to be more prominent in the lower extremities than the upper extremities. People with this condition may also have high-arched feet (pes cavus) and absent tendon reflexes. In some cases, there can be sensory impairment and intellectual disability.

This condition is caused by genetic mutations and follows an X-linked recessive inheritance pattern. The known gene associated with this condition is CMTX2. It is inherited, which means it can be passed from one generation to the next.

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.