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]

• 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]

• Movement Disorder

  At each visit Assess for new manifestations such as seizures, changes in tone, movement disorders. Development Monitor developmental progress & educational needs. [ncbi.nlm.nih.gov]

• Intravenous Administration

  administration as a total parenteral nutrition additive. [ncbi.nlm.nih.gov]

• Pneumonia

  Cardiorespiratory failure, often precipitated by pneumonia, is a common cause of death. Imaging Brain MRI shows cerebral and cerebellar atrophy with ventriculomegaly, delayed myelination, and vascular tortuosity. [ncbi.nlm.nih.gov]

• Foot Deformity

  Special shoes with good ankle support; ankle-foot orthoses; physical therapy; occupational therapy; orthopedic surgery for severe pes cavus deformity; mobility devices; and exercise as tolerated. Surveillance: Menkes disease. [ncbi.nlm.nih.gov]

• Muscular Atrophy

  ATP7A-related distal motor neuropathy is also known as X-linked distal spinal muscular atrophy 3. [ncbi.nlm.nih.gov]

• Suggestibility

  Diagnosis Suggestive Findings An ATP7A-related copper transport disorder (Menkes disease, occipital horn syndrome, or ATP7A-related distal motor neuropathy) should be suspected in individuals with the following clinical and laboratory findings. [ncbi.nlm.nih.gov]

• Foot Drop

  Treatment of Manifestations in a Male with ATP7A-Related Distal Motor Neuropathy Manifestation/Concern Treatment Neuropathy Special shoes, incl those w/good ankle support AFOs to correct foot drop & aid walking PT (strength & stretching exercises) OT [ncbi.nlm.nih.gov]

• Absent Ankle Reflex

  […] varying from normal to diminished, with frequently absent ankle reflexes Reduced compound motor amplitudes on nerve conduction tests with generally normal conduction velocities with positive waves and fibrillations on EMG Laboratory Findings Serum concentration [ncbi.nlm.nih.gov]

• 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]

• Hypoglycemia

  Transient hypoglycemia, prolonged physiologic jaundice, and persistent temperature instability are nonspecific signs that may be noted in the neonatal period. [ncbi.nlm.nih.gov]

• Polyps

  Evaluate for gastric polyps. [ncbi.nlm.nih.gov]

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

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