ALTERNATE NAMES

Cerebro-oculomuscular Syndrome; Chemke Syndrome; HARD +/- Syndrome; HARDE Syndrome; Hydrocephalus, Agyria and Retinal Dysplasia; Lissencephaly Type II; Muscle-Eye-Brain Disease; Oculocerebral Malformation; Pagon Syndrome; Warburg Syndrome; WWS; WWS Muscular Dystrophy

DESCRIPTION

Walker Warburg syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy (CMD) and is the most severe type of CMD. WWS is present at birth and results in fatal neurological lesions in the brain that are characterized by smoothness of the surface of the brain, thickening of the cortex and other brain abnormalities. Several genetic mutations occur in WWS: POMT1, POMT2, and fukutin protein.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

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  Laboratory tests showing elevated creatine kinase (CK);

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  Myopathic/dystrophic muscle pathology and altered a-dystroglycan; and

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  Electromyography (EMG) showing myopathic changes in the brain.

Genetic testing is definitive.

Physical findings: Symptoms include:

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  Hypotonia (weak muscle tone);

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  Muscle weakness;

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  Developmental delay with intellectual disability;

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  Occasional seizures;

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  Eye abnormalities (retinal detachment, cataracts, conjunctivitis) which lead to blindness;

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  Encephalocele; and

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  Cleft lip and cleft palate.

ICD-9: 359.0

PROGRESSION

WWS is the most severe form of the CMD with most children dying before age 3. The few children who survive until 5 years of age have severe intellectual disability and delayed development.

TREATMENT

There is currently no cure for WWS. Supportive care is the only form of treatment currently available.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical examination including a description of physical findings;

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  Family history;

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  Genetic testing;

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  EMG or nerve conduction tests; and

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  Blood and enzyme tests.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.13

Equals