Living with Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
A very rare inherited nerve condition that begins before birth, with reduced fetal movement and severe breathing and muscle problems at birth.
Understanding Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
It is a severe nerve disease affecting movement and feeling. During pregnancy it shows as reduced fetal movement and extra amniotic fluid. At birth, babies need help to breathe with a ventilator and have very low muscle tone, weakness that quickly worsens in the hands and feet, and no deep tendon reflexes. Joints are not stiff or fixed.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its description mentions these:
- Reduced fetal movement
- Extra amniotic fluid during pregnancy
- Needing breathing support at birth
- Very low muscle tone
- Fast-worsening weakness in the hands and feet
- No deep tendon reflexes
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: autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
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, lethal neonatal, axonal sensorimotor, autosomal recessive.
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