Living with Congenital sensory neuropathy with selective loss of small myelinated fibers
A rare genetic nerve condition present from infancy in which people cannot feel pain, heat, or cold normally.
Understanding Congenital sensory neuropathy with selective loss of small myelinated fibers
Signs usually appear at birth or in infancy. People cannot feel pain, heat, or cold well, especially deep pain from bones, ligaments, or muscles. Because of this, injuries such as fractures and joint injuries can go unnoticed. Repeated injury can destroy the bones and tissue around joints (Charcot joints).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Not feeling pain (pain insensitivity)
- Trouble sensing heat and cold
- Fractures that do not hurt
- Poor wound healing
- Little or no sweating (anhidrosis)
- Mild intellectual disability
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 NGF 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
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: 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 The Foundation for Peripheral Neuropathy 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 changes in the NGF gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf; congenital insensitivity to pain and thermal analgesia; hereditary sensory and autonomic neuropathy type 5; hereditary sensory and autonomic neuropathy type v; hereditary sensory and autonomic neuropathy, type v; hsan type v
Patient organizations
- 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 Congenital sensory neuropathy with selective loss of small myelinated fibers.
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