Dejerine Sottas Disease is a rare genetic disorder that affects the peripheral nerves, which are responsible for transmitting signals between the brain and spinal cord to the rest of the body. It is classified as a type of Charcot-Marie-Tooth disease, which is a group of inherited neuropathies.
Individuals with Dejerine Sottas Disease typically experience progressive muscle weakness and wasting, as well as sensory loss in their limbs. This can lead to difficulties with mobility, coordination, and fine motor skills. Symptoms often appear in early childhood and worsen over time.
The underlying cause of Dejerine Sottas Disease is mutations in certain genes that are involved in the production of myelin, a substance that coats and protects the nerves. These mutations result in the abnormal development and maintenance of myelin, leading to nerve damage and dysfunction.
Treatment for Dejerine Sottas Disease focuses on managing symptoms and improving quality of life. This may involve physical therapy, assistive devices, pain management, and orthopedic interventions. Genetic counseling may also be recommended for affected individuals and their families.