Table 3b.

WARS2-Related Movement Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Neurologic Assessment by neurologist for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)Use standardized scale to establish baseline for ataxia (e.g., SARA).
Assess for parkinsonism.Use UPDRS.
Assess for myoclonus incl myoclonus at rest, w/action, & in response to stimuli.Use standardized UMRS.
Musculoskeletal /
Activities of Daily Living 		By physical medicine & rehab / OT & PTTo assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, need for ongoing PT/OT
Ophthalmologic Complete eye exam
  • Assess for best corrected visual acuity, nystagmus, & ptosis.
  • Consider referral for corrective measures incl prisms &/or surgery.
Dysarthria Eval by speech-language pathologistTo determine need for speech-language therapy &/or alternative means of communication
Feeding For those w/frequent choking or severe dysphagia, assess nutritional status & aspiration risk.Consider involving a gastroenterology / nutrition / feeding team, incl formal swallowing eval.
Cognitive By psychologistCognitive eval to establish baseline
Psychiatric By mental health professional or psychiatristEvaluate as needed for depression & supportive therapy.
Educational assessment Eval for IEPPerformed by educational institution
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of WARS2 deficiency to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources;
  • Social work involvement for parental support;
  • Home nursing referral.
To facilitate peer support for affected persons & their families

IEP = individual educational plan; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMRS = Unified Myoclonus Rating Scale; UPDRS = Unified Parkinson's Disease Rating Scale

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: WARS2 Deficiency

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