Which are the causes of Dejerine Sottas Disease?

Dejerine-Sottas disease, also known as Dejerine-Sottas neuropathy, is a rare genetic disorder that affects the peripheral nerves. It is classified as a type of Charcot-Marie-Tooth disease (CMT), which is a group of inherited neuropathies.

The primary cause of Dejerine-Sottas disease is mutations in certain genes that are responsible for the production of proteins involved in the structure and function of peripheral nerves. These mutations lead to abnormalities in the myelin sheath, which is the protective covering of nerve fibers. As a result, the nerves become thickened and dysfunctional.

Dejerine-Sottas disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If both parents carry a single copy of the mutated gene, each child has a 25% chance of inheriting the disease.

Genetic mutations associated with Dejerine-Sottas disease can occur in several different genes, including PMP22, MPZ, ERG2, and PRX. These genes play crucial roles in the formation and maintenance of myelin. Mutations in the PMP22 gene are the most common cause of Dejerine-Sottas disease.

The symptoms of Dejerine-Sottas disease typically appear in early childhood or adolescence. Affected individuals may experience progressive muscle weakness, loss of sensation, and abnormalities in the limbs. These symptoms can vary in severity, with some individuals experiencing significant disability while others have milder symptoms.

While there is currently no cure for Dejerine-Sottas disease, treatment focuses on managing the symptoms and improving quality of life. This may involve physical therapy to maintain muscle strength and flexibility, assistive devices such as braces or orthotics to aid in mobility, and pain management strategies.

In conclusion, Dejerine-Sottas disease is a rare genetic disorder caused by mutations in genes involved in peripheral nerve function. These mutations lead to abnormalities in the myelin sheath and result in progressive muscle weakness and sensory loss. While the disease is currently incurable, various treatments can help manage symptoms and improve the quality of life for affected individuals.