Overview
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare inherited brain disorder caused by changes (mutations) in the PYCR2 gene. This gene provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 2, which plays an important role in producing the amino acid proline. When this enzyme does not work properly, it affects how brain cells develop and survive. The disease is also sometimes referred to as hypomyelinating leukoencephalopathy-10 (HLD10). The condition mainly affects the brain and nervous system. Children with this disorder are typically born with a smaller-than-normal head size (microcephaly), and over time the white matter of the brain — the tissue that helps nerve signals travel quickly — breaks down progressively. This is called leukoencephalopathy. As the disease progresses, children experience increasing difficulties with movement, muscle tone, and intellectual development. Key symptoms include intellectual disability, muscle stiffness or weakness, delayed development, and seizures. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting development, and improving quality of life through therapies such as physical therapy, occupational therapy, and anti-seizure medications when needed.
Key symptoms:
Smaller-than-normal head size (microcephaly) present from birth or developing early in lifeIntellectual disability ranging from moderate to severeDelayed or absent developmental milestones such as sitting, walking, and talkingMuscle stiffness (spasticity) affecting the arms and legsMuscle weaknessSeizuresPoor or absent ability to walk independentlyFeeding difficulties in infancyAbnormal eye movements or vision problemsProgressive worsening of neurological symptoms over time
Clinical phenotype terms (50)— 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 PYCR2-related microcephaly-progressive leukoencephalopathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for PYCR2-related microcephaly-progressive leukoencephalopathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for PYCR2-related microcephaly-progressive leukoencephalopathy.
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 PYCR2-related microcephaly-progressive leukoencephalopathy.
Community
No community posts yet. Be the first to share your experience with PYCR2-related microcephaly-progressive leukoencephalopathy.
Start the conversation →Latest news about PYCR2-related microcephaly-progressive leukoencephalopathy
No recent news articles for PYCR2-related microcephaly-progressive leukoencephalopathy.
Follow this condition to be notified when news becomes available.
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 specific mutations were found in my child's PYCR2 gene, and what do they mean for how severe the disease might be?,Should other family members, including siblings, be tested for this condition?,What therapies do you recommend right now, and how often should my child receive them?,What signs should prompt me to go to the emergency room, and do we need a seizure rescue medication at home?,Are there any clinical trials or research studies that my child might be eligible for?,What specialists should be part of my child's care team, and how often should we see each one?,What can we expect over the next few years in terms of how the disease may progress?
Common questions about PYCR2-related microcephaly-progressive leukoencephalopathy
What is PYCR2-related microcephaly-progressive leukoencephalopathy?
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare inherited brain disorder caused by changes (mutations) in the PYCR2 gene. This gene provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 2, which plays an important role in producing the amino acid proline. When this enzyme does not work properly, it affects how brain cells develop and survive. The disease is also sometimes referred to as hypomyelinating leukoencephalopathy-10 (HLD10). The condition mainly affects the brain and nervous system. Children with this disorder are typically born with
How is PYCR2-related microcephaly-progressive leukoencephalopathy inherited?
PYCR2-related microcephaly-progressive leukoencephalopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PYCR2-related microcephaly-progressive leukoencephalopathy typically begin?
Typical onset of PYCR2-related microcephaly-progressive leukoencephalopathy is infantile. Age of onset can vary across affected individuals.