Overview
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a very rare inherited brain disease caused by a faulty gene called DECR1. This gene normally helps the body break down certain fats called polyunsaturated fatty acids. When DECR1 does not work properly, these fats build up and damage the brain's white matter — the tissue that helps different parts of the brain communicate with each other. This damage is called leukodystrophy. The disease mainly affects the brain and nervous system. Children with this condition typically develop normally at first, but then begin to lose skills they had already learned — a process called regression. Symptoms include seizures, problems with movement and coordination, intellectual disability, and muscle weakness. Brain scans usually show abnormal white matter changes that help doctors identify the condition. There is currently no cure for this disease. Treatment focuses on managing symptoms, especially seizures, and supporting the child's development through therapies. Because this condition is so rare, it has only been described in a small number of families worldwide, and research is still in early stages. Early diagnosis through genetic testing is important so families can access the right support and monitoring.
Key symptoms:
SeizuresLoss of previously learned skills (developmental regression)Intellectual disabilityMuscle weakness or low muscle toneProblems with balance and coordinationDifficulty walkingAbnormal white matter in the brain seen on MRISpeech and language delays or lossFeeding difficultiesSpasticity (stiff or tight muscles)
Clinical phenotype terms (28)— 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 Progressive encephalopathy with leukodystrophy due to DECR deficiency.
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Specialists
View all specialists →No specialists are currently listed for Progressive encephalopathy with leukodystrophy due to DECR deficiency.
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 Progressive encephalopathy with leukodystrophy due to DECR deficiency.
Community
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Caregiver Resources
NORD 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 genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,What anti-seizure medications are most appropriate for my child, and what are the side effects?,Are there any clinical trials or research studies we could participate in?,What therapies — physical, occupational, or speech — would benefit my child most right now?,How quickly do you expect the disease to progress, and what signs should prompt us to seek urgent care?,Are there any dietary changes or supplements that might help?,What support services and palliative care resources are available to our family?
Common questions about Progressive encephalopathy with leukodystrophy due to DECR deficiency
What is Progressive encephalopathy with leukodystrophy due to DECR deficiency?
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a very rare inherited brain disease caused by a faulty gene called DECR1. This gene normally helps the body break down certain fats called polyunsaturated fatty acids. When DECR1 does not work properly, these fats build up and damage the brain's white matter — the tissue that helps different parts of the brain communicate with each other. This damage is called leukodystrophy. The disease mainly affects the brain and nervous system. Children with this condition typically develop normally at first, but then begin to lose s
How is Progressive encephalopathy with leukodystrophy due to DECR deficiency inherited?
Progressive encephalopathy with leukodystrophy due to DECR deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive encephalopathy with leukodystrophy due to DECR deficiency typically begin?
Typical onset of Progressive encephalopathy with leukodystrophy due to DECR deficiency is infantile. Age of onset can vary across affected individuals.