Living with Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
A rare inherited condition with thick skin on the palms and soles plus nerve problems that weaken the legs.
Understanding Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Thick skin on the palms and soles starts in childhood. Later, nerve damage causes weakness and muscle wasting, mostly in the lower legs, and reduced feeling in a stocking-and-glove pattern. Weakness can later spread higher in the legs and into the arms. Nerve speed tests are normal or near normal. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Thick skin on palms and soles
- Weakness and muscle loss in the lower legs
- Reduced feeling in hands and feet
- Reduced vibration sense
- Tingling (paresthesia) or pain
- High-arched or twisted 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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Skin, hair, and nail specialists (dermatologists)
- 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
GARD says this condition is autosomal dominant, which means one changed copy of a gene is enough to cause it. It doesn't list the specific gene.
Also known as: axonal neuropathy with palmoplantar keratoderma; charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy; keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy; palmoplantar keratoderma-charcot-marie-tooth syndrome; palmoplantar keratoderma, charcot-marie-tooth syndrome; palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome.
Explore research for Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Explore actively recruiting Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome studies with HealthSpark.
Find actively recruiting studies for Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.