Table 5.

Treatment of Manifestations in Individuals with EPG5-Related Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Central nervous system involvement Treatment w/ASMMost persons respond to standard ASM, but response may vary.
Treatment for mvmt disorders
Referral for early intervention & developmental supportSee Developmental Delay / Intellectual Disability Management Issues.
Antispasticity medications (i.e., oral baclofen or botulinum toxin injections), surgical tendon release
Musculoskeletal PT/OTReferral to orthopedic surgeon as indicated
Feeding difficulties
& failure to gain weight
  • Nutritional supplementation as directed by dietitian
  • Consider gastrostomy placement.
Gastrostomy tube feeding ↓ aspiration risk, provides a reliable route for medication, & may improve somatic growth.
Ophthalmologic involvement Cataract surgery
Low vision servicesThrough early intervention programs
Sensorineural hearing loss Per treating pediatric ENT/audiologistUse of hearing aids may be indicated.
Cardiac involvement Per treating cardiologist
Dermatologic involvement Per primary care physicianAvoid excessive sun exposure; use protective clothing & sunscreen when appropriate.
Immunodeficiency
  • Per treating immunologist
  • Immunoglobulin infusions, vitamin D supplementation, antimicrobial prophylaxis 1
Consider lack of specific antibody response due to defect of memory B cells to certain immunizations (e.g., tetanus or pneumococcal vaccine). 2
Pulmonary function
  • During chest infections, rigorous antibiotic therapy, chest physiotherapy, potentially ICU treatment & ventilation
  • Antibiotic prophylaxis
Consider both central & obstructive apnea; polysomnographic monitoring as indicated; & noninvasive ventilatory support.
Thyroid function Thyroid hormone replacementAs clinically indicated
Liver function Consider coagulation abnormalities if liver function is disturbed.
Renal function Per treating nephrologistConsider hypokalemia in particular.
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

Adapted from Byrne et al [2016a], Table 2

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

1.
2.

No data are available on use of live viral vaccines in individuals with this disorder.

From: EPG5-Related Disorder

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