HSAN type I, also known as hereditary sensory and autonomic neuropathy type I, is a rare genetic disorder characterized by the progressive degeneration of sensory and autonomic nerve fibers.
In HSAN type I, there is a deficiency or malfunction in the production of a protein called neurotrophic tyrosine kinase receptor 1 (NTRK1). This protein is crucial for the normal growth, development, and survival of certain nerve cells. As a result, affected individuals experience a loss of sensation and abnormal perception of pain, temperature, and touch.
The symptoms of HSAN type I usually appear during infancy or early childhood. A prominent feature is the inability to feel pain, which can lead to injuries and burns that often go unnoticed. Affected individuals may also have impaired reflexes, muscle weakness, and difficulty coordinating movements. The autonomic nervous system dysfunction can cause problems with regulating body temperature, blood pressure, and digestion, leading to irregular heart rhythms, gastrointestinal issues, and excessive sweating or lack of sweating.
HSAN type I is usually inherited in an autosomal recessive manner, which means that an affected individual inherits two copies of the mutated gene, one from each parent who is a carrier. Genetic testing and clinical examinations can aid in diagnosing the condition.
While there is no cure for HSAN type I, management mainly involves addressing the symptoms and preventing complications. Physical therapy, assistive devices, and medications may be utilized to improve mobility and relieve pain. Regular monitoring and preventive measures are essential to ensure the well-being of individuals with HSAN type I.
