Overview
Autosomal recessive cerebral atrophy is an extremely rare genetic condition in which the brain gradually shrinks (atrophies) over time. Because it follows an autosomal recessive inheritance pattern, a child must inherit two copies of the faulty gene — one from each parent — to develop the disease. The condition primarily affects the brain, leading to progressive loss of brain tissue that can cause a wide range of neurological problems. Affected individuals may experience developmental delays, intellectual disability, seizures, problems with movement and coordination, and progressive loss of previously acquired skills. Symptoms often begin in infancy or early childhood and tend to worsen over time as more brain tissue is lost. Because this is such a rare condition, the treatment landscape is very limited. There are currently no curative therapies available. Management focuses on supportive care, which may include anti-seizure medications, physical therapy, occupational therapy, and speech therapy to help maintain function and quality of life for as long as possible. Families affected by this condition benefit from a multidisciplinary care team that can address the many challenges that arise as the disease progresses.
Key symptoms:
Progressive shrinking of the brainDevelopmental delayIntellectual disabilitySeizures or epilepsyLoss of previously learned skillsDifficulty with movement and coordinationMuscle stiffness or spasticityWeak muscle tone in infancyDifficulty swallowing or feedingVision problemsSlow head growth (microcephaly)Speech and language difficultiesIrritability or behavioral changes
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
FDA & Trial Timeline
1 eventVanderbilt University Medical Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebral atrophy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive cerebral atrophy at this time.
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Rare Disease Specialist
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 Autosomal recessive cerebral atrophy.
Community
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Start the conversation →Latest news about Autosomal recessive cerebral atrophy
Disease timeline:
New recruiting trial: Treatment of Supine Hypertension in Autonomic Failure (CPAP)
A new clinical trial is recruiting patients for Autosomal recessive cerebral atrophy
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 genetic mutation is causing my child's condition, and what does it mean for their prognosis?,What therapies and interventions should we start right away to support my child's development?,How will seizures be managed, and what should I do if my child has a prolonged seizure at home?,Are there any clinical trials or research studies that my child might be eligible for?,When should we consider involving a palliative care team?,What signs should I watch for that might indicate the disease is progressing?,Are other family members at risk, and should they be tested?
Common questions about Autosomal recessive cerebral atrophy
What is Autosomal recessive cerebral atrophy?
Autosomal recessive cerebral atrophy is an extremely rare genetic condition in which the brain gradually shrinks (atrophies) over time. Because it follows an autosomal recessive inheritance pattern, a child must inherit two copies of the faulty gene — one from each parent — to develop the disease. The condition primarily affects the brain, leading to progressive loss of brain tissue that can cause a wide range of neurological problems. Affected individuals may experience developmental delays, intellectual disability, seizures, problems with movement and coordination, and progressive loss of pr
How is Autosomal recessive cerebral atrophy inherited?
Autosomal recessive cerebral atrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebral atrophy typically begin?
Typical onset of Autosomal recessive cerebral atrophy is infantile. Age of onset can vary across affected individuals.
Which specialists treat Autosomal recessive cerebral atrophy?
5 specialists and care centers treating Autosomal recessive cerebral atrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.