SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4 (also called CMT4K) is a very rare inherited nerve disorder that affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. It is caused by mutations in the SURF1 gene, which is important for the proper function of mitochondria, the energy-producing structures inside cells. When this gene does not work correctly, nerve cells cannot produce enough energy, leading to progressive damage to the peripheral nerves. The disease typically begins in childhood and causes slowly worsening muscle weakness and wasting, especially in the feet, lower legs, and hands. People with this condition often develop difficulty walking, foot deformities such as high arches or hammertoes, and reduced sensation in the hands and feet. Some individuals may also experience fatigue and problems with balance. Because the nerves that control muscles (motor nerves) and the nerves that carry sensation (sensory nerves) are both affected, this is classified as a demyelinating sensorimotor neuropathy, meaning the protective covering (myelin) around the nerves is damaged. There is currently no cure for SURF1-related CMT4. Treatment focuses on managing symptoms and maintaining function through physical therapy, occupational therapy, orthopedic devices like braces, and sometimes surgery for foot deformities. Research into mitochondrial therapies and gene-based treatments is ongoing but no specific disease-modifying therapies are yet available.

Bring these to your next appointment

• Q1.How quickly is this condition likely to progress in my case or my child's case?,What physical therapy program do you recommend, and how often should sessions occur?,Should we consider ankle-foot braces or other assistive devices now?,Are there any supplements or medications that might help with energy or nerve function?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek urgent medical attention?,Should other family members be tested for carrier status?

Common questions about SURF1-related Charcot-Marie-Tooth disease type 4