Charcot–Marie–Tooth disease 2B1

Charcot–Marie–Tooth disease 2B1 (CMT2B1) is a subtype of Charcot–Marie–Tooth disease (CMT), a group of inherited disorders that affect the peripheral nerves. CMT2B1 is caused by mutations in the LMNA gene, which provides instructions for making proteins that are essential for the structural support and function of cells.

Symptoms

The symptoms of CMT2B1 typically begin in early adulthood and include weakness and atrophy of the muscles of the lower legs, leading to difficulty walking. Over time, these symptoms can progress to the hands and arms. Some people with CMT2B1 may also develop sensory loss, foot deformities, and other complications.

Genetics

CMT2B1 is inherited in an autosomal dominant manner, which means one copy of the altered LMNA gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

The diagnosis of CMT2B1 is based on the clinical symptoms, family history, and confirmed by genetic testing. Electromyography (EMG) and nerve conduction studies can also be used to support the diagnosis.

Treatment

There is currently no cure for CMT2B1. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, use of assistive devices, and surgery for foot deformities.

See also

• Charcot–Marie–Tooth disease
• Peripheral neuropathy
• Genetic disorder