Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with SH3TC2-Related Hereditary Motor and Sensory Neuropathy

System/ConcernEvaluationComment
Growth Measure height, weight, head circumference.
Neurologic Neurologic exam by child neurologistAssessment for:
  • Tone, weakness, atrophy, sensory loss, joint contractures
  • Foot &/or hand involvement
  • Spine involvement
  • Cranial nerve involvement
  • Ataxia
  • Gait stability using CMT Infant Scale 1 or CMT Pediatric Scale 2
  • Pain w/attention to distinguishing between neuropathic & mechanical pain
Spine/foot
deformities 		By pediatric orthopedist to determine interventions needed
Musculoskeletal Physical medicine & rehab / PT/OT evalTo incl assessment of:
  • Gross motor & fine motor skills & need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Need for AFOs, specialized shoes
  • Mobility, ADL, & need for adaptive devices/durable equipment
  • Need for handicapped parking
By pediatric orthopedistAssess amount & progression of spinal curvature & extent of foot deformities.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Dysarthria Speech/language assessment by speech therapistTo determine need for speech therapy
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Hearing Audiologic evalAssess for hearing loss.
Eyes Ophthalmologic examBaseline exam
Respiratory By pediatric pulmonologistBaseline exam
Genetic
counseling 		By genetics professionals 3To inform affected persons & families re nature, MOI, & implications of SH3TC2-HMSN to facilitate medical & personal decision making
Family support/
resources 		Assess need for:

ADL = activities of daily living; AFOs = ankle-foot orthotics; CMT = Charcot-Marie-Tooth; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.
2.
3.

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

From: SH3TC2-Related Hereditary Motor and Sensory Neuropathy

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