Overview
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome is a very rare condition that affects the nervous system, brain, and eyes all at the same time. It combines three major problems: spinal muscular atrophy (weakness and wasting of the muscles caused by nerve damage in the spinal cord), Dandy-Walker malformation (a structural problem in the back part of the brain called the cerebellum, where fluid-filled spaces are enlarged and parts of the brain may be underdeveloped), and cataracts (clouding of the lenses in the eyes that can reduce vision). This combination of features is sometimes referred to by its Orphanet code OMIM entry or simply as SMA-Dandy-Walker-cataracts syndrome. Because the spinal cord nerves that control muscle movement are damaged, children with this condition typically have significant muscle weakness, poor muscle tone (floppiness), and difficulty with movement from a very early age. The brain malformation can cause problems with balance, coordination, and intellectual development. Cataracts present at or shortly after birth can further affect a child's ability to see and develop normally. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, supporting breathing and nutrition, providing physical and occupational therapy, and correcting cataracts surgically when possible. Because this condition is so rare, care is highly individualized and usually involves a team of specialists working together to support the child and family.
Also known as:
Key symptoms:
Severe muscle weakness, especially in the arms and legsVery low muscle tone (floppy baby appearance)Difficulty breathing due to weak respiratory musclesTrouble swallowing and feedingCloudy lenses in the eyes (cataracts) present from birth or early infancyEnlarged fluid-filled spaces in the back of the brain (Dandy-Walker malformation)Delayed or absent motor milestones such as sitting or rollingProblems with balance and coordinationIntellectual disability or developmental delaysAbnormally large head size (macrocephaly) in some casesReduced or absent reflexes
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spinal muscular atrophy-Dandy-Walker malformation-cataracts 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 Spinal muscular atrophy-Dandy-Walker malformation-cataracts 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 genetic testing do you recommend to confirm the diagnosis and find the exact cause?,How severely are my child's breathing muscles affected, and will they need breathing support now or in the future?,Should my child have cataract surgery, and if so, how soon?,Does my child's brain malformation require any surgical treatment such as a shunt?,What therapies (physical, occupational, speech) should we start right away, and how often?,Are there any clinical trials or research studies we should know about for this condition?,What support services and palliative care resources are available to our family?
Common questions about Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
What is Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome is a very rare condition that affects the nervous system, brain, and eyes all at the same time. It combines three major problems: spinal muscular atrophy (weakness and wasting of the muscles caused by nerve damage in the spinal cord), Dandy-Walker malformation (a structural problem in the back part of the brain called the cerebellum, where fluid-filled spaces are enlarged and parts of the brain may be underdeveloped), and cataracts (clouding of the lenses in the eyes that can reduce vision). This combination of features is so
How is Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome inherited?
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome typically begin?
Typical onset of Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome is neonatal. Age of onset can vary across affected individuals.