Overview
VPS11-related autosomal recessive hypomyelinating leukodystrophy is an extremely rare genetic brain disorder that affects the development of myelin, the protective coating around nerve fibers in the brain and spinal cord. Myelin acts like insulation on electrical wires, helping nerve signals travel quickly and efficiently. When myelin does not form properly (a process called hypomyelination), nerve signals slow down or fail to reach their destination, leading to serious neurological problems. This condition is caused by mutations in the VPS11 gene, which plays an important role in how cells transport and sort materials internally. Children with this disease typically show signs early in life, including severe developmental delays, difficulty with movement and coordination, vision problems, and intellectual disability. Many affected children have trouble reaching basic milestones like sitting, standing, or speaking. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting quality of life through physical therapy, occupational therapy, and other supportive measures. Because the disease is so rare, research is still in early stages, and much remains to be learned about the full range of symptoms and long-term outcomes. The condition may also be referred to as VPS11-related leukoencephalopathy or VPS11-related hypomyelinating leukodystrophy.
Key symptoms:
Severe developmental delayIntellectual disabilityDifficulty with movement and coordinationInability to walk independentlyDifficulty speaking or absence of speechLow muscle tone (floppiness) in infancyIncreased muscle stiffness (spasticity) over timeVision problems or blindnessSeizuresDifficulty swallowing or feedingSmall head size (microcephaly)Involuntary eye movements (nystagmus)Poor head controlIrritability
Clinical phenotype terms (26)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for VPS11-related autosomal recessive hypomyelinating leukodystrophy.
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Specialists
View all specialists →No specialists are currently listed for VPS11-related autosomal recessive hypomyelinating leukodystrophy.
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 VPS11-related autosomal recessive hypomyelinating leukodystrophy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 disease for my child based on their specific genetic mutations?,What therapies and interventions should we start right away to give my child the best quality of life?,How should we manage feeding difficulties, and when should we consider a feeding tube?,What seizure medications are safest and most effective for my child?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team, and how often should we see them?,What genetic counseling is available for our family regarding future pregnancies?
Common questions about VPS11-related autosomal recessive hypomyelinating leukodystrophy
What is VPS11-related autosomal recessive hypomyelinating leukodystrophy?
VPS11-related autosomal recessive hypomyelinating leukodystrophy is an extremely rare genetic brain disorder that affects the development of myelin, the protective coating around nerve fibers in the brain and spinal cord. Myelin acts like insulation on electrical wires, helping nerve signals travel quickly and efficiently. When myelin does not form properly (a process called hypomyelination), nerve signals slow down or fail to reach their destination, leading to serious neurological problems. This condition is caused by mutations in the VPS11 gene, which plays an important role in how cells t
How is VPS11-related autosomal recessive hypomyelinating leukodystrophy inherited?
VPS11-related autosomal recessive hypomyelinating leukodystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does VPS11-related autosomal recessive hypomyelinating leukodystrophy typically begin?
Typical onset of VPS11-related autosomal recessive hypomyelinating leukodystrophy is infantile. Age of onset can vary across affected individuals.