Charcot-Marie-Tooth disease axonal type 2U

Charcot-Marie-Tooth disease axonal type 2U (CMT2U) is a form of Charcot-Marie-Tooth disease that causes nerve problems. It is an inherited condition passed down in an autosomal dominant manner. Most people with this condition start to show symptoms in late adulthood, usually between 50 and 60 years old. This disease is marked by a slow loss of nerve function. It primarily affects the nerves outside the brain and spinal cord, leading to muscle weakness and wasting in both the arms and legs, as well as reduced sensation. Nerve conduction tests often show reduced speed or even absence of signals, and some people may also experience neuropathic pain.

People with this condition often experience progressive muscle weakness and atrophy in the upper and lower limbs. There is also a loss of sensation in the hands and feet, and physical examinations usually reveal reduced tendon reflexes. Some individuals may report neuropathic pain due to the nerve damage.

This condition is caused by a mutation in the MARS1 gene and is inherited in an autosomal dominant pattern, meaning that a mutation in just one copy of the gene can lead to the disease. This genetic change affects the normal functioning of the nerves, leading to the symptoms seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

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