Living with Hereditary sensorimotor neuropathy with hyperelastic skin
A rare inherited nerve condition with weakness in the hands and feet, stretchy skin, and a type of eye disease.
Understanding Hereditary sensorimotor neuropathy with hyperelastic skin
Weakness and muscle wasting are mild to moderate and mostly in the hands and feet, with variable loss of feeling there. It also comes with age-related macular degeneration (an eye condition). Some people have very flexible joints in the hands and feet, a high palate, and minor bone differences. It can start at any time in life.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- Weakness in the hands and feet
- Muscle wasting
- Reduced feeling in the hands and feet
- Stretchy skin
- Macular degeneration in the eye
- Very flexible joints in the hands and feet
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 FBLN5 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 FBLN5 gene. It is autosomal dominant, so one changed copy of the gene is enough.
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 Hereditary sensorimotor neuropathy with hyperelastic skin.
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