Hereditary Sensory and Autonomic Neuropathies (HSAN), also known as Hereditary Sensory Neuropathy or Hereditary Sensory and Autonomic Neuropathy, refer to a group of rare genetic disorders characterized by abnormalities in the sensory and autonomic nervous systems. These conditions are typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent – to develop the disorder.
HSAN affects the nerves responsible for transmitting sensory information, leading to impaired or loss of sensation in various parts of the body, including the hands, feet, and other extremities. As a result, individuals with HSAN may have difficulty feeling pain, temperature changes, or detecting injuries. Moreover, these conditions may also impact the autonomic nervous system, which controls involuntary bodily functions such as heart rate, blood pressure, and digestion. Consequently, individuals may experience symptoms like excessive sweating, lack of tears, impaired bladder control, or abnormalities in blood pressure regulation.
There are different types of hereditary sensory and autonomic neuropathies, each with its own specific genetic mutation, inheritance pattern, and clinical features. The severity and progression of the condition can vary widely among individuals. While HSAN currently has no cure, management typically involves controlling symptoms, preventing complications such as infections or injuries, and providing supportive care to enhance the quality of life for affected individuals. Genetic counseling is crucial for affected families, as it helps to understand the inheritance pattern and to make informed decisions regarding family planning.
