Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (also called RI-CMTC or AR-CMTC) is a rare inherited nerve disorder that belongs to the Charcot-Marie-Tooth (CMT) family of diseases. CMT diseases affect the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. In this particular form, the disease is called 'intermediate' because nerve conduction studies show features that fall between the two classic CMT types: the demyelinating form (which damages the nerve's protective coating) and the axonal form (which damages the nerve fiber itself). This means the nerve signals travel at speeds that are slower than normal but not as slow as in purely demyelinating forms. People with this condition typically develop progressive muscle weakness and wasting, especially in the feet, lower legs, and hands. This can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with fine motor skills like buttoning clothes or writing. Sensory loss — reduced ability to feel touch, temperature, or pain in the hands and feet — is also common. Because the condition is autosomal recessive, a person must inherit a faulty gene copy from each parent to develop the disease. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function through physical therapy, occupational therapy, orthopedic devices like braces or special shoes, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into potential therapies is ongoing.

Bring these to your next appointment

• Q1.How severe is the nerve damage based on the nerve conduction studies, and what does that mean for my (or my child's) future mobility?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any medications or substances I should avoid that could make the nerve damage worse?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or research studies that we could participate in?,When should we consider orthopedic interventions like braces or surgery?,How often should follow-up appointments and nerve conduction studies be scheduled?

Common questions about Autosomal recessive intermediate Charcot-Marie-Tooth disease type C