Overview
Hypomyelination neuropathy-arthrogryposis syndrome is an extremely rare condition that affects both the nervous system and the joints. The name describes its two main features: hypomyelination, which means the protective covering (myelin) around nerves does not develop properly, and arthrogryposis, which refers to joints that are stiff and locked in fixed positions from birth. Myelin is like insulation around electrical wires — without it, nerve signals cannot travel properly to the muscles. This leads to severe muscle weakness and poor muscle tone (hypotonia) from birth. Babies born with this condition typically have multiple joint contractures, meaning their arms, legs, and other joints are bent or extended in fixed positions and are difficult to move. Because the nerves that control muscles are not working properly due to the lack of myelin, affected infants have significant difficulty with movement, breathing, and feeding. The condition is present at birth and is often life-threatening in the newborn period. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing symptoms such as breathing difficulties, feeding problems, and joint stiffness. Physical therapy may be used to try to improve joint mobility. Because this condition is so rare, research is very limited, and the treatment landscape remains largely focused on comfort and supportive care.
Key symptoms:
Stiff, locked joints at birth (arthrogryposis)Severe muscle weaknessVery low muscle tone (floppy baby)Breathing difficultiesFeeding difficultiesReduced or absent reflexesPoor nerve function in arms and legsLimited movement of limbsThin or underdeveloped musclesClubfoot or other foot deformitiesFailure to thriveDelayed or absent motor development
Clinical phenotype terms (5)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypomyelination neuropathy-arthrogryposis syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hypomyelination neuropathy-arthrogryposis syndrome.
Community
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected course of this condition for my child specifically?,What breathing and feeding support will my child need, and for how long?,Are there any genetic tests that can confirm the exact cause of this condition?,What therapies are available to help with joint stiffness and mobility?,Is there a risk of this condition occurring again in future pregnancies?,Are there any clinical trials or research studies we could participate in?,What palliative or comfort care options are available if needed?
Common questions about Hypomyelination neuropathy-arthrogryposis syndrome
What is Hypomyelination neuropathy-arthrogryposis syndrome?
Hypomyelination neuropathy-arthrogryposis syndrome is an extremely rare condition that affects both the nervous system and the joints. The name describes its two main features: hypomyelination, which means the protective covering (myelin) around nerves does not develop properly, and arthrogryposis, which refers to joints that are stiff and locked in fixed positions from birth. Myelin is like insulation around electrical wires — without it, nerve signals cannot travel properly to the muscles. This leads to severe muscle weakness and poor muscle tone (hypotonia) from birth. Babies born with thi
How is Hypomyelination neuropathy-arthrogryposis syndrome inherited?
Hypomyelination neuropathy-arthrogryposis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypomyelination neuropathy-arthrogryposis syndrome typically begin?
Typical onset of Hypomyelination neuropathy-arthrogryposis syndrome is neonatal. Age of onset can vary across affected individuals.