Hereditary sensorimotor neuropathy

Hereditary Sensorimotor Neuropathy (HSN), also known as Charcot-Marie-Tooth disease, is a group of inherited disorders that affect the peripheral nerves. These disorders are characterized by a progressive loss of muscle tissue and touch sensation across various parts of the body.

Etiology

HSN is caused by mutations in specific genes. These mutations lead to abnormalities in the structure and function of the peripheral nerves, which are the nerves outside the brain and spinal cord. The most common types of HSN are caused by mutations in the PMP22, MPZ, MFN2, and GJB1 genes.

Symptoms

The symptoms of HSN typically begin in adolescence or early adulthood and progress slowly over time. The most common symptoms include muscle weakness and wasting in the feet and lower legs, leading to foot deformities such as high arches and hammer toes. Other symptoms may include numbness in the feet and hands, difficulty with balance and coordination, and, in some cases, hearing loss.

Diagnosis

Diagnosis of HSN is based on clinical examination, family history, and genetic testing. Electromyography and nerve conduction studies may also be used to confirm the diagnosis.

Treatment

There is currently no cure for HSN. Treatment is focused on managing symptoms and preventing complications. This may include physical therapy, occupational therapy, and the use of assistive devices such as braces and orthotics. In some cases, surgery may be recommended to correct foot deformities.

Prognosis

The prognosis for individuals with HSN varies depending on the specific type and severity of the disorder. While HSN can significantly impact an individual's quality of life, it does not typically affect life expectancy.

See Also

• Peripheral Neuropathy
• Genetic Disorders
• Neurology