Hereditary Sensory Neuropathy (HSN), also known as Hereditary Sensory and Autonomic Neuropathy (HSAN), is a group of genetic disorders characterized by abnormalities in the sensory nerves that transmit information from the body's periphery, such as the skin, to the brain. It is considered a rare peripheral neuropathy that primarily affects the sensory function, although autonomic nervous system and motor function impairments may also be present.
People with hereditary sensory neuropathy may experience a wide range of symptoms, which can vary in severity between individuals and different subtypes of the disorder. Common symptoms include reduced or absent ability to feel pain, temperature, and touch, resulting in an increased risk of injury, burns, and infections. Additionally, individuals may have diminished reflexes, muscle weakness, and impaired coordination. Some forms of HSN may also affect the autonomic nervous system, leading to abnormalities in blood pressure regulation, digestive function, and sweating.
Hereditary sensory neuropathy is caused by mutations in various genes involved in the structure and function of sensory nerve cells. The inheritance pattern can be autosomal dominant, autosomal recessive, or X-linked, depending on the specific subtype. Diagnosis of HSN involves a thorough clinical evaluation, genetic testing, nerve conduction studies, and skin biopsies to assess nerve density.
Currently, there is no cure for hereditary sensory neuropathy. Treatment aims to manage symptoms, prevent complications, and improve quality of life. This may involve pain management strategies, physical therapy, assistive devices to prevent injuries, and regular monitoring for potential complications. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and associated risks.
