Living with Walker-Warburg congenital muscular dystrophy
An inherited condition present at birth that affects muscles, brain, and eyes.
Understanding Walker-Warburg congenital muscular dystrophy
It is the most severe of the congenital muscular dystrophies, which cause muscle weakness beginning very early in life. Babies have low muscle tone. The brain has a bumpy surface (cobblestone lissencephaly), and some have extra fluid in the brain. Eye differences are common, and some people have seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and muscle weakness
- Brain surface lacking folds (lissencephaly)
- Global developmental delay
- Small or missing eyeballs
- Clouding of the cornea or lens
- Glaucoma
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Muscular Dystrophy Association, Epilepsy Foundation
- 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 Muscular Dystrophy Association and other patient organizations
- 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 (variants) cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebroocular dysplasia-muscular dystrophy syndrome; hard (hydrocephalus, agyria, retinal dysplasia) syndrome; hard syndrome; hydrocephalus-agyria-retinal dysplasia syndrome; hydrocephalus, agyria and retinal dysplasia; muscular dystrophy-dystroglycanopathy, type a
Patient organizations
- Muscular Dystrophy AssociationWalker-Warburg congenital muscular dystrophy · United States
- Cure CMD - Congenital Muscular DystrophyWalker-Warburg congenital muscular dystrophy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Walker-Warburg congenital muscular dystrophy.
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