Hereditary Sensory Radicular Neuropathy, also known as HSAN, is a rare genetic disorder that affects the sensory nerves in the body. It is characterized by the impairment or loss of sensation, particularly in the limbs, causing pain, numbness, and a reduced ability to feel temperature, touch, or vibration. HSAN is classified as a peripheral neuropathy, meaning it primarily affects the peripheral nerves that connect the spinal cord to the rest of the body.
The condition is hereditary, meaning it is passed down genetically from parent to child. It is caused by mutations in specific genes responsible for the development and function of sensory nerves. These mutations disrupt the normal transmission of signals from the peripheral nerves to the brain, leading to the sensory loss experienced by individuals with HSAN.
Symptoms of HSAN typically manifest in early childhood or adolescence, though the severity and specific symptoms can vary among affected individuals. In addition to sensory impairment, some individuals may experience muscle weakness, joint deformities, or difficulties with coordination and balance. The progression of HSAN can be gradual or rapid, and it may affect different parts of the body to varying degrees.
Currently, there is no cure for HSAN, and treatment focuses on managing symptoms and providing support to affected individuals. This may involve physical therapy, assistive devices to aid mobility, and medications to alleviate pain. Due to the genetic nature of the condition, genetic counseling is recommended for individuals and families affected by HSAN to understand the pattern of inheritance and to explore options for family planning.
