Overview
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome is a rare inherited neurological condition that affects the brain's ability to coordinate movement and mental development. The disease primarily involves the cerebellum, which is the part of the brain responsible for balance, coordination, and smooth movement. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and speaking. They may have difficulty with balance and coordination (called ataxia), which can make walking unsteady and fine motor tasks like writing or buttoning clothes challenging. Intellectual disability or learning difficulties of varying severity are also common features. Because this is an autosomal recessive condition, a child must inherit two copies of the faulty gene — one from each parent — to develop the disease. Parents who each carry one copy are typically unaffected. The syndrome usually becomes apparent in infancy or early childhood when developmental delays are first noticed. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through physical therapy, occupational therapy, speech therapy, and educational support. The severity of symptoms can vary between affected individuals, and ongoing medical care from a team of specialists is important to optimize quality of life.
Also known as:
Key symptoms:
Unsteady or wobbly walking (ataxia)Delayed motor milestones such as sitting and walkingDelayed speech developmentIntellectual disability or learning difficultiesPoor coordination of hand and arm movementsLow muscle tone (floppiness)Difficulty with balanceSlow psychomotor developmentTremor or shaking during purposeful movementsDifficulty with fine motor tasks like writing or using utensilsAbnormal eye movements
Clinical phenotype terms (13)— 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 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cerebellar ataxia-psychomotor delay syndrome.
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 cerebellar ataxia-psychomotor delay syndrome.
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 genetic mutation is causing my child's condition, and what does it mean for their future?,What therapies do you recommend, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,What developmental milestones should we realistically expect, and on what timeline?,Should other family members be tested for carrier status?,What school accommodations should we request for our child?,Are there any complications we should watch for as our child grows?
Common questions about Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
What is Autosomal recessive cerebellar ataxia-psychomotor delay syndrome?
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome is a rare inherited neurological condition that affects the brain's ability to coordinate movement and mental development. The disease primarily involves the cerebellum, which is the part of the brain responsible for balance, coordination, and smooth movement. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and speaking. They may have difficulty with balance and coordination (called ataxia), which can make walking unsteady and fine motor tasks like writing or butto
How is Autosomal recessive cerebellar ataxia-psychomotor delay syndrome inherited?
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebellar ataxia-psychomotor delay syndrome typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-psychomotor delay syndrome is infantile. Age of onset can vary across affected individuals.