Table 7.

Recommended Evaluations Following Initial Diagnosis in Individuals with Late-Onset Sandhoff Disease

System/ConcernEvaluationComment
Neurologic Neurology eval
  • Assess for weakness, tremor, ataxia, & neuropathy.
  • To incl brain MRI
  • To incl EMG/NCS
Dysarthria Speech evalBy speech-language pathologist
Psychiatric Neuropsychiatric & psychiatric evalAssess for psychosis, anxiety, & depression.
Musculoskeletal
system 		Physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to prevent falls & pressure wounds) &/or OT to maximize independence in ADL
Genetic
counseling 		By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of this disorder to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources;
  • Social work involvement for support.

ADL = activities of daily living; EMG = electromyogram; MOI = mode of inheritance; NCS = nerve conduction studies; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Sandhoff Disease

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