Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 1E is a rare form of an inherited nerve disorder that affects the peripheral nerves, which help control movement and sensation. People with this condition may experience a range of symptoms, and the severity can vary from very mild to more severe forms. In some cases, symptoms begin early in childhood, with a delay in walking being noted. In other cases, the condition may present later in life. Severe forms of this disorder can include additional features such as hearing loss and slower transmission of nerve signals, making the condition more noticeable than in milder cases.

Common signs of Charcot-Marie-Tooth disease type 1E include delayed walking in early childhood, weakness in the arms and legs, and challenges with muscle control. In some individuals, there may be hearing loss and other nerve-related issues. The symptoms can vary greatly depending on the specific mutation involved.

This condition is caused by point mutations in the PMP22 gene located on chromosome 17p12. The particular mutation impacts how severe the condition may be. Some mutations lead to very mild symptoms, while others result in an earlier and more severe presentation, sometimes resembling other nerve disorders.

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.