Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B1 is a rare inherited disorder that affects the peripheral nerves, which help control movement and sensation. It is classified as an axonal peripheral sensorimotor polyneuropathy, meaning that the nerve fibers themselves are affected, which can lead to muscle weakness and sensory problems over time. While the full range of features and how they vary among people remains under study, this condition generally impacts the nerves that are responsible for transmitting signals between the brain and the rest of the body. Information about detailed clinical presentation remains limited in the current sources.

Information about symptoms is currently limited for this condition.

Charcot-Marie-Tooth disease type 2B1 is linked to changes in the LMNA gene. This gene is important for normal cellular function, and mutations in it can affect the structure and function of nerves. Because this condition is inherited, it is passed down through families as a genetic trait.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with this condition is currently limited.

Information about current research and future directions is currently limited for this condition.