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Hereditary Sensory and Autonomic Neuropathy TypeII (HSAN2)

What is Hereditary Sensory and Autonomic Neuropathy TypeII (HSAN2)?

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a rare genetic disorder that usually begins in childhood by affecting the nerves that serve the lower legs and feet and the lower arms and hands. 

What are the symptoms of Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)? 

HSAN2 is characterized by sensory loss of the distal portions of the legs. Distal refers to those areas that are farther from the center of the body and includes the lower arms and legs and the hands and feet. The legs and feet are more severely affected than the arms and hands. 

Furthermore,  affected individuals may experience progressive numbness and tingling in the hands and feet. They may also experience reduced sensation to temperature, pain and touch. Eventually, affected individuals will be unable to distinguish between cold or warm stimuli and be unable to feel pain in the affected area

What causes Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)? 

HSAN2 is caused by a mutation in the one of three genes. HSAN2A is caused by mutations in the WNK1 gene, HSAN2B is caused by mutations in the FAM134B gene. HSAN2C is caused by mutations in the KIF1A gene, HSAN2D is caused by mutations in the SCN9A gene. 

How is Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) diagnosed?

A diagnosis of HSAN2 is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. 

Congenital or early onset of sensory deficits and a family history consistent with autosomal recessive inheritance are indicative of HSAN2.

What are the treatments for Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)?

The treatment of HSAN2 is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedists, orthopedic surgeons, dermatologists, physiotherapists, and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment. Genetic counseling may be of benefit for affected individuals and their families.

Where can I find out more about Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)? 

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