Overview
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy is a rare inherited brain disease. It is sometimes referred to by the gene name involved: C11ORF73-related leukodystrophy. The disease belongs to a group of conditions called leukodystrophies, which affect the white matter of the brain. White matter is made up of nerve fibers coated in a protective layer called myelin. Myelin acts like insulation on an electrical wire — it helps signals travel quickly and correctly through the brain and nervous system. In this disease, myelin does not form properly from early in life, a problem called hypomyelination. Because the brain's communication system is disrupted, children with this condition typically experience delays in reaching developmental milestones, problems with movement and coordination, muscle tone abnormalities, and intellectual disability. Symptoms usually appear in infancy or early childhood. Brain MRI scans show a characteristic pattern of reduced or absent myelin. There is currently no cure for this disease. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes physical therapy, occupational therapy, speech therapy, and medications to manage specific symptoms such as seizures. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Delayed motor development (late sitting, standing, or walking)Intellectual disability or learning difficultiesPoor muscle tone (hypotonia) or abnormally stiff muscles (spasticity)Problems with coordination and balanceNystagmus (involuntary, repetitive eye movements)SeizuresSpeech and language delaysDifficulty swallowingSlow or absent development of normal reflexesProgressive neurological decline in some cases
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 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy.
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Specialists
View all specialists →No specialists are currently listed for C11ORF73-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 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy.
Community
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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 specific changes were found in the C11ORF73 gene, and what do they mean for my child's prognosis?,Should other family members be tested as carriers?,What therapies do you recommend starting right away, and how often should they happen?,Are there any clinical trials or research studies we should know about?,What signs should prompt us to go to the emergency room?,How often should my child have brain MRI scans to monitor the disease?,Are there leukodystrophy specialist centers or expert networks you would recommend we connect with?
Common questions about C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
What is C11ORF73-related autosomal recessive hypomyelinating leukodystrophy?
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy is a rare inherited brain disease. It is sometimes referred to by the gene name involved: C11ORF73-related leukodystrophy. The disease belongs to a group of conditions called leukodystrophies, which affect the white matter of the brain. White matter is made up of nerve fibers coated in a protective layer called myelin. Myelin acts like insulation on an electrical wire — it helps signals travel quickly and correctly through the brain and nervous system. In this disease, myelin does not form properly from early in life, a proble
How is C11ORF73-related autosomal recessive hypomyelinating leukodystrophy inherited?
C11ORF73-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 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy typically begin?
Typical onset of C11ORF73-related autosomal recessive hypomyelinating leukodystrophy is infantile. Age of onset can vary across affected individuals.