Table 7.

Additional Treatments for Individuals with HPRT1 Disorders: HND

Manifestation/
Concern		TreatmentConsiderations/Other
Motor
impairments 		Pharmacologic
  • No medication reliably controls dystonia in HND.
  • Antispasticity agents may be useful for spasticity.
Orthopedic
problems 		PT/OTHelpful to limit contractures
Surgical interventionOrthopedic interventions may be required to address contractures, dislocations, & related problems.
Intellectual
disability 		See Developmental Delay / Intellectual Disability Management Issues.
  • Cognitive problems may not be apparent w/o neuropsychological testing.
  • Problems w/attention are common & create learning disability.

HND = HPRT1-related neurologic dysfunction; OT = occupational therapy; PT = physical therapy

From: HPRT1 Disorders

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