MENKES DISEASE – CLASSIC
OR
INFANTILE ONSET FORM
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ALTERNATE NAMES
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Classical Menkes Disease; Congenital Hypocupremia; Menkes Syndrome; Steely Hair Disease;
X-Linked Copper Deficiency
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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. MNK -
Classic form is the most severe type of this disorder and has an infantile onset (usually beginning
at age two to three months).
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic
testing:
-
•
Low copper and ceruloplasmin levels in the blood;
-
•
Skin biopsy and fibroblast culture documenting abnormal copper metabolism; and
-
•
Microscopic examination of the hair showing characteristic menkes abnormalities; molecular
genetic testing showing ATP7A mutations.
Physical findings:
-
•
Characteristic brittle, colorless hair that breaks easily;
-
•
Poor growth/failure to thrive;
-
•
Hypotonia (floppy muscle tone);
-
•
Skeletal deformities and weak bones (osteoporosis); and
-
•
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 two or three months of age. The prognosis for infantile onset
MNK is poor, with most children dying by age three.
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TREATMENT
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Treatment of MNK 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:
-
•
Clinical history and examination that describes the diagnostic features of the impairment;
-
-
•
Computed tomography (CT) and magnetic resonance imaging (MRI) showing white matter
demyelination, lesions, atrophy, and evidence of rupture or blockage of the arteries;
and
-
•
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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