Living with Hereditary sensory and autonomic neuropathy type 7
A genetic condition with no feeling of pain, heavy sweating, and gut problems, starting at birth or infancy.
Understanding Hereditary sensory and autonomic neuropathy type 7
Digestive problems can include slow weight gain, painful constipation, and diarrhea, because the gut muscles and nerves do not move food well. Not feeling pain often leads to repeated injuries such as broken bones and dislocated joints, and slow healing. Other features include partial lack of sensation to heat and cold, mild muscle weakness, and delayed motor skills. GARD says it is not known to affect learning or intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unable to feel pain
- Excessive sweating
- Constipation and diarrhea
- Slow healing
- Delayed motor skills
- Itching
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SCN11A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hereditary Neuropathy Foundation Inc. and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hereditary Neuropathy Foundation Inc., The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hereditary Neuropathy Foundation Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by a change in the SCN11A gene. It is autosomal dominant, so each child of a person with it has a 1 in 2 (50%) chance of inheriting it.
Also known as: autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a; cip with hyperhidrosis and gastrointestinal dysfunction; congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; hereditary sensory and autonomic neuropathy type vii; hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction; hsan vii
Patient organizations
- Hereditary Neuropathy Foundation Inc.Hereditary sensory and autonomic neuropathy type 7 · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary sensory and autonomic neuropathy type 7.
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