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ATP7A-Related Copper Transport Disorders

Presentation

Classic Menkes disease typically presents after a six- to 12-week period of good health following a normal pregnancy and birth. Feeding difficulties and/or a seizure event are the usual initial presenting features. [ncbi.nlm.nih.gov]

Entire Body System

  • Weight Gain

    Education of parents/caregivers 1 Developmental delay / Intellectual disability Early intervention incl OT, PT, & speech therapy as indicated IEP Management by developmental pediatrician Poor weight gain / Failure to thrive Feeding therapy; gastrostomy [ncbi.nlm.nih.gov]

Neurologic

  • Stroke

    Association Nos Enfants Menkes France Email: [email protected] Associazione Angeli Italy Email: [email protected] Medline Plus National Institute of Neurological Disorders and Stroke (NINDS) PO Box 5801 Bethesda MD 20824 Phone: 800-352 [ncbi.nlm.nih.gov]

Treatment

Treatment of manifestations: Classic Menkes disease. [ncbi.nlm.nih.gov]

Prevention

AFOs = ankle-foot orthoses; OT = occupational therapy; PT = physical therapy Prevention of Primary Manifestations Menkes disease. [ncbi.nlm.nih.gov]

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