Living with Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
A rare nervous system condition with cataracts, a brain difference, and muscle weakness in the legs that begins in childhood.
Understanding Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
People have cataracts in both eyes and a Dandy-Walker malformation, a difference in the back of the brain. In childhood, weakness and muscle wasting slowly worsen, mostly in the lower legs and less in the arms. Reflexes are reduced. Onset is in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts (clouded lenses)
- Dandy-Walker malformation
- Weakness in the outer limbs
- Wasting of lower leg muscles
- Small cerebellar vermis
- Reduced reflexes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Dandy-Walker Alliance, Inc.
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but it doesn't list a gene or how it is inherited.
Also known as: spinal muscular atrophy, dandy-walker malformation, cataract syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome.
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