Living with Polyneuropathy-hand defect syndrome
A very rare inherited nerve condition present from birth, with bent fingers and thumbs, reduced feeling in the hands and weak muscles.
Understanding Polyneuropathy-hand defect syndrome
It affects both movement and feeling (hereditary motor and sensory neuropathy). Signs include bent thumb and fingers and reduced feeling in the hand. Surgery on the hands has shown that the muscles and tendons that straighten the fingers are missing or underdeveloped. There have been no further descriptions in the literature since 1986.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fingers that stay bent (camptodactyly)
- Reduced feeling in the hand
- Missing or small muscles
- Muscle wasting
- Decreased sweating and heat intolerance
- Reduced ability to feel pain
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.
- 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)
- 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 changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy; congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy; digital extensor muscle aplasia-polyneuropathy; hamanishi ueba tsuji syndrome; hamanishi-ueba-tsuji syndrome
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 Polyneuropathy-hand defect syndrome.
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