HSAN Type I, also known as hereditary sensory and autonomic neuropathy type I, is a rare genetic disorder characterized by the impairment of sensory and autonomic nerve function. This condition is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.
Individuals with HSAN Type I experience abnormalities in the peripheral nerves that control the processes of touch, pain, temperature regulation, and various involuntary body functions, including digestion, heart rate, and blood pressure. These nerve abnormalities can result in a lack of feeling, particularly in the extremities such as the hands and feet, which can lead to unintentional self-injury or the development of wounds that go unnoticed. Other symptoms may include slow growth, muscle weakness, impaired reflexes, various autonomic dysfunctions, and in some cases, intellectual disability.
The exact underlying genetic mutation that causes HSAN Type I may vary, but it often affects the nerve cells' structure and function. There is currently no cure for HSAN Type I, and treatment aims to manage symptoms and improve quality of life. This may involve physical therapy to address muscle weakness, assistive devices to help prevent injuries, and regular monitoring for any potential complications.
Overall, HSAN Type I is a serious and potentially debilitating disorder that affects sensory and autonomic nerve function, leading to various physical and functional impairments.
