Program Operations Manual System (POMS)
TN 36 (09-20)
COMPASSIONATE ALLOWANCES INFORMATION
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WALKER
WARBURG SYNDROME |
ALTERNATE NAMES
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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
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DESCRIPTION
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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. Several genetic mutations occur in WWS: POMT1, POMT2
and fukutin protein.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: 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.
Physical findings: Symptoms include:
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Hypotonia (weak muscle tone);
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Developmental delay with intellectual disability;
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Eye abnormalities (retinal detachment, cataracts, conjunctivitis) which lead to blindness;
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Cleft lip and cleft palate.
ICD-9: 359.0
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PROGRESSION
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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.
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TREATMENT
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There is currently no cure for Walker Warburg Syndrome. Supportive care is the only
form of treatment currently available.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical examination including a description of physical findings;
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Electromyography or nerve conduction tests; and
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
110.08
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111.13
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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