Charcot-Marie-Tooth disease X-linked recessive 3

X-linked Charcot-Marie-Tooth disease type 3 is a rare genetic condition that affects the peripheral nerves. It is inherited in an X-linked recessive pattern and usually begins in childhood or adolescence. People with this condition often experience a gradual loss of muscle strength and muscle wasting that starts in the lower legs and later affects the upper limbs. In addition to muscle weakness, there is also a loss of sensation in the hands and feet. The condition is characterized by several signs including a high arch (pes cavus), reduced or absent tendon reflexes in the limbs, and in some cases, abnormal reflex responses such as spastic paraparesis. Early symptoms may include pain and unusual sensations (paresthesia). This overview is based on the trusted definition and related disease identifiers provided in the source fields.

Common signs and symptoms include progressive muscle weakness and atrophy, beginning in the legs and then affecting the arms. There is also a loss of sensation in the hands and feet. Additional features noted in some cases include a high foot arch, reduced or absent reflexes, and sometimes signs of spasticity such as hyperactive reflexes and a positive Babinski sign. Pain and abnormal sensations may also be among the first symptoms people experience.

X-linked Charcot-Marie-Tooth disease type 3 is caused by genetic changes affecting the CMTX3 gene. It follows an X-linked recessive inheritance pattern, meaning that the gene involved is located on the X chromosome. This genetic factor causes abnormal function in the peripheral nerves, leading to the symptoms seen in this 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.