Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of inherited peripheral neuropathy that affects the nerves outside the brain and spinal cord. It is part of the broader group of Charcot-Marie-Tooth diseases (CMT1) and shows a variable clinical presentation. For some people, symptoms appear in childhood and can lead to severe impairment, while for others, the condition may be milder and become noticeable in adulthood. This condition is characterized by progressive damage to the motor and sensory nerves. The damage usually occurs in the distal (far) parts of the limbs, especially the lower legs. This can result in muscle weakness ranging from mild to severe, absent tendon reflexes, and reduced nerve conduction. The variability in onset and severity means that everyday function can be affected differently among people with this condition.

Common signs and symptoms of CMT1F include progressive weakness and loss of muscle function in the lower limbs. People may experience a range from mild weakness to complete paralysis of distal muscle groups. Other symptoms noted include reduced sensation, diminished tendon reflexes, and decreased nerve conduction. These symptoms reflect the impact on both motor and sensory nerves.

CMT1F is caused by mutations in the NEFL gene, which is located on chromosome 8p21.2. Changes in this gene disrupt the normal function of nerve fibers, leading to the demyelinating effects observed in this condition. As it is a genetic disorder, the mutation can be inherited and leads to the symptoms seen in affected individuals.

Information about treatment is currently limited for this condition.

The outlook for people with CMT1F varies widely because of the range in age of onset and severity of symptoms. Some may experience only mild impairment, while others might have more significant challenges due to progressive nerve damage. Ongoing monitoring helps in managing the symptoms and improving quality of life, but detailed long-term outcomes are not well defined in the current information.

Information about current research is currently limited for this condition. Studies continue to explore the genetic factors and potential therapies, but detailed research findings have not been summarized in the available resources.