TN 3 (02-10)
DI 23022.525 Walker Warburg Syndrome
WALKER WARBURG SYNDROME
WWS; WWS Muscular Dystrophy; Warburg syndrome; Pagon Syndrome; Chemke Syndrome; Hydrocephalus, Agyria and Retinal Dysplasia; HARD +/- Syndrome; HARDE syndrome; Muscle-Eye-Brain disease; Cerebro-oculomuscular syndrome; Lissencephaly type II; Oculocerebral malformation
Walker Warburg Syndrome (WWS) is a rare form of autosomal recessive 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. Symptoms include: hypotonia, muscle weakness, developmental delay with intellectual disability, occasional seizures and eye abnormalities (retinal detachment, cataracts, conjunctivitis) which lead to blindness. Other common symptoms may include encephalocele, cleft lip and cleft palate. Several genetic mutations occur in WWS: POMT1, POMT2 and fukutin protein.
TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Laboratory tests showing elevated creatine kinase (CK), myopathic/dystrophic muscle pathology and altered a-dystroglycan. EMG showing myopathic changes in the brain. Genetic testing is definitive.
ICD-9: 359.0 Congenital hereditary muscular dystrophy
ONSET AND PROGRESSION
WWS is the most severe form of the CMD with most children dying before age three. The few children who survive until 5 years of age have severe intellectual disability and delayed development.
There is currently no cure for Walker Warburg Syndrome. Supportive care is the only form of treatment currently available.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: Clinical examination including a description of physical findings, family history, genetic testing, electromyography or nerve conduction tests, and blood and enzyme tests.
Suggested Listings for Evaluation:
WWS produces long-term interference with age appropriate activities resulting in extreme limitation of functioning.
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.