Charcot Marie Tooth Disease Type 4J (CMT4J)

Charcot Marie Tooth Disease Type 4J (CMT4J) is an inherited neuropathy affecting the peripheral nervous system. CMT4J is a rare subtype of Charcot Marie Tooth disease involving genetic mutations in the FIG4 gene. People with CMT4J can experience a broad range of symptoms, from fairly mild to severe. Typically, CMT4J causes progressive muscle weakness in the limbs, sometimes leading to wheelchair dependency and paralysis. Scoliosis is also common. Sensory involvement can occur, including numbness, tingling, or pain. CMT4J can sometimes weaken muscles involved with breathing, leading to chronic respiratory failure and the need for mechanical respiratory supports. Symptoms of CMT4J can begin at nearly any age. Early onset disease can begin in infancy/toddlerhood, showing up as delayed motor milestones, delayed walking, or a halting gait. Later onset disease can occur in adolescence or adulthood. Disease progression is also highly variable.

CMT4J is often misdiagnosed as CIDP (chronic inflammatory demyelinating polyneuropathy). Genetic testing can confirm diagnosis.

Management of CMT4J is based on supportive care, as currently there are no approved treatments. Research in gene therapy and other treatments is ongoing.

The latest on our research

We are jumpstarting our CMT4J program to accelerate research on the disorder and welcome all parents and caregivers interested in participating and spreading the word to the CMT4J community.