Table 4.

Treatment of Manifestations in Individuals with Mucolipidosis IV

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Hypotonia Ankle-foot orthotics in individuals w/hypotonia & weakness of ankle dorsiflexionPT & rehab can help strengthen core muscles & improve posture.
Spasticity & dystonia
  • Orthopedics / physical medicine & rehab / PT/OT incl stretching to help avoid contractures & falls
  • Intramuscular botulinum toxin injections or oral medications for muscle spasticity & rigidity
  • PT & rehab can help prevent permanent joint contractures.
  • Consider need for positioning & mobility devices, disability parking placard.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Abnormal vision
&/or strabismus
  • Surgical correction of strabismus
  • High-contrast black & white materials for those w/visual impairment
  • Community vision services through early intervention or school district
  • Note: Corneal transplantation or scraping has not been successful because the donor corneal epithelium is eventually replaced by the abnormal host epithelium or the affected person's epithelium regrows.
Ocular irritation Topical lubricating eye drops, artificial tears, gels, or ointments for management of intermittent ocular irritation seen frequently in younger children
  • Use preservative-free drops only.
  • Consult ophthalmologist before treatment.
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
Gastrointestinal Establish care w/gastroenterologist for management of constipation & bile reflux (nonacidic in context of achlorhydria).
Renal failure Supportive care by nephrologist
Iron deficiency anemia Iron supplementation as needed (e.g., oral ferrous sulfate)Intravenous supplementation only in symptomatic persons

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

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Mucolipidosis IV

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