MENKES DISEASE – CLASSIC or INFANTILE ONSET
FORM
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ALTERNATE NAMES |
Classical Menkes Disease; Menkes Syndrome ; X-linked Copper Deficiency; Steely Hair
Disease; Congenital Hypocupremia
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DESCRIPTION
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Menkes Disease (MNK) is a rare inherited neurodegenerative disorder that is caused by mutations in the
ATP7A gene, resulting in abnormal uptake and metabolism of copper in cells of the
body. Low copper levels can affect the structure of bone, skin, hair, and blood vessels
and interfere with nerve function. Copper also builds up in the small intestine and
kidneys. MNK is characterized by loss of developmental milestones, hypotonia (floppy
muscle tone), seizures, feeding difficulties, failure to thrive, subnormal body temperature,
and strikingly peculiar hair, which is often colorless or steel colored, and breaks
easily. Menkes Disease-Classic
form is the most severe type of this disorder and has an infantile onset (usually beginning
at age 2-3 months).
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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Low copper and ceruloplasmin levels in the blood;
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Skin biopsy and fibroblast culture documenting abnormal copper metabolism; and
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Microscopic examination of the hair showing characteristic menkes abnormalities; molecular
genetic testing showing ATP7A mutations.
Physical findings:
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Characteristic brittle, colorless hair that breaks easily;
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Poor growth/failure to thrive;
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Hypotonia (floppy muscle tone);
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Skeletal deformities and weak bones (osteoporosis); and
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Global developmental delays.
ICD-9:
759.89
ICD-10: E83.09
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PROGRESSION
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Children with Classic or infantile onset MNK appear normal at birth, and then start
showing symptoms around 2 -3 months of age. The prognosis for infantile onset MNK
is poor, with most children dying by age 3.
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TREATMENT
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Treatment of Menkes disease is symptomatic and supportive. Early treatment with copper
may improve the prognosis in some affected individuals.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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CT and MRI showing white matter demyelination, lesions, atrophy, and evidence of rupture
or blockage of the arteries; and
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Developmental assessment or psychological testing to address allegations of mental
impairments may be warranted.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Listing level neuro-cognitive findings must be documented; diagnosis of MNK or genetic
laboratory testing results alone does not meet listing severity.
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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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