Hereditary sensory or autonomic neuropathy (HSAN) is a group of disorders that are inherited and can affect both the sensory and autonomic nervous systems. It is caused by genetic mutations that affect the production of proteins that are important for the development and maintenance of the nervous system.
HSAN is diagnosed based on a physical exam and a detailed medical history. Neurophysiological tests, such as nerve conduction studies and electromyography, can be used to confirm the diagnosis. Additional testing such as genetic testing may be recommended to identify the specific mutation causing HSAN.
Differential diagnoses for HSAN include other inherited peripheral neuropathies such as Charcot-Marie-Tooth disease and Fabry disease, as well as acquired peripheral neuropathies such as diabetes-related neuropathy and HIV-related neuropathy.
Treatment is focused on managing symptoms and preventing complications. Treatment may include physical and occupational therapy, pain medications, and lifestyle modifications. In some cases, surgery may be necessary to correct deformities or relieve pressure on nerves.
The prognosis for HSAN is variable. In some cases, the condition may be mild and not cause significant disability. In other cases, the condition may cause severe disability that affects a person’s ability to perform everyday activities.