Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with GARS1-Associated Axonal Neuropathy: Infantile-Onset Spinal Muscular Atrophy (GARS1-iSMA)

System/ConcernEvaluationComment
Constitutional Assessment of growth parametersPlotted on a standard growth chart
Gastrointestinal/
Feeding 		Assessment for feeding dysfunction, gastroesophageal reflux disease, dysmotility incl constipation
  • Incl eval of aspiration risk w/formal swallow study, nutritional status, & time required to complete a feed.
  • Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Respiratory Assess pulmonary & respiratory function.Refer to pulmonologist; consider a polysomnogram.
Musculoskeletal Orthopedic, physical medicine & rehab, PT/OT eval
  • Incl assessment of gross motor & fine motor skills.
  • Assess equipment needed for safety (car seat / car bed) & independence, such as power chair & other equipment in the home to improve quality of life for patient & caregiver.
Genetic
counseling 		By genetics professionals 1To inform families re nature, MOI, & implications of GARS1-iSMA in order to facilitate medical & personal decision making
Family support
& resources 		Assess:
  • Use of community or online resources;
  • Need for social work involvement for caretaker support.

OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: GARS1-Associated Axonal Neuropathy

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