Table 4a. [Treatment of Manifestations in Individuals with Classic Menkes Disease]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Seizures	Standardized treatment w/ASM by experienced pediatric neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. 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 tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Bladder diverticula	Antibiotic prophylaxis regimen advised to prevent bladder infection Surgical resection if severe
Recurrent pneumonia	Gastrostomy tube feeds to ↓ risk of aspiration pneumonia Vaccination against RSV, influenza, & COVID	Home oxygen, BiPAP &/or tracheostomy, as indicated
Family/ Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing

Manifestation/
Concern

Treatment

Considerations/Other

Seizures

Standardized treatment w/ASM by experienced pediatric neurologist

Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
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 tube placement may be required for persistent feeding issues.

Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia

Bladder
diverticula

Antibiotic prophylaxis regimen advised to prevent bladder infection
Surgical resection if severe

Recurrent
pneumonia

Gastrostomy tube feeds to ↓ risk of aspiration pneumonia
Vaccination against RSV, influenza, & COVID

Home oxygen, BiPAP &/or tracheostomy, as indicated

Family/
Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing

From: ATP7A-Related Copper Transport Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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