Hereditary sensory and autonomic neuropathy type 7

Alternate names

Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; HSAN with hyperhidrosis and gastrointestinal dysfunction; HSAN7; Neuropathy, hereditary sensory and autonomic, type VII; Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction; CIP with hyperhidrosis and gastrointestinal dysfunction; Hereditary sensory and autonomic neuropathy type VII

Definition

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues.

Cause

HSAN7 is caused by a mutation in the SCN11A gene.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called "autosomal dominant."

Onset

Signs and symptoms of HSAN7 usually appear at birth or during infancy.

Signs and symptoms

• It is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues.
• Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea.
• The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should.
• The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations.
• People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection.
• Excessive sweating may cause itching.
• Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays.

Treatment

Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems.

NIH genetic and rare disease info

• NIH info on Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy type 7 is a rare disease.

Hereditary sensory and autonomic neuropathy type 7 Resources
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