HSAN Type II, also known as hereditary sensory and autonomic neuropathy Type II, is a rare genetic disorder that affects the peripheral nervous system. It is characterized by the progressive loss of sensory and autonomic nerve fibers, leading to various symptoms and complications.
In HSAN Type II, individuals experience a gradual loss of sensation in the hands and feet, starting from childhood or adolescence. As the disorder progresses, the lack of sensation can extend to other parts of the body. This sensory loss can make it difficult for affected individuals to sense pain, temperature, and touch, which may result in injuries going unnoticed and untreated.
Autonomic nerve fiber involvement leads to various complications, including abnormalities in sweating and temperature regulation, which can cause heat intolerance or excessive sweating. Some individuals may also develop muscle weakness, particularly in the lower limbs, and experience difficulty walking. Additional symptoms can include foot deformities, joint abnormalities, and impaired reflexes.
HSAN Type II is caused by mutations in the WNK1 or KIF1A genes, which are responsible for the production of proteins involved in the development and maintenance of peripheral nerves. This disorder is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected.
Currently, there is no cure for HSAN Type II. Treatment focuses on managing the symptoms and complications. Physical therapy, pain management strategies, orthopedic interventions, and assistive devices may be utilized to improve quality of life for individuals with this condition.
