Table 7.

Recommended Surveillance for Individuals with SH3TC2-Related Hereditary Motor and Sensory Neuropathy

System/ConcernEvaluationFrequency
Neuropathy Assess for motor & sensory changes.Every 6 mos
Foot deformity Assess foot deformities & compliance w/daily heel cord stretching exercises to prevent Achilles' tendon shortening.
Assess feet for sores, ill-fitting shoes.Daily monitoring by patient
Spine deformity Orthopedist: monitor type & degree of spinal deformities.4x/yr recommended
Musculoskeletal
  • OT: Monitor hand function.
  • PT: Monitor strength, mobility.
  • Both: Monitor ADL.
Every 6 mos
Development Monitor developmental progress & educational needs.Annually
Dysarthria Per speech/language therapist
Gastrointestinal/
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Per gastroenterologist
Hearing Assess & monitor hearing impairment.Per audiologist & otolaryngologist
Eyes Assess & monitor ophthalmologic involvement.Per ophthalmologist
Respiratory Monitor for development of respiratory insufficiency / hypoventilation.Per pulmonologist
Pain Intensity, frequency, response to medicationsAs dictated by clinical evolution
Cramps
Career/Employment Highlight importance of investing in education to assure independent living.At each visit to neurology clinic
Family support/
resources 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

ADL = activities of daily living; OT = occupational therapy; PT = physical therapy

From: SH3TC2-Related Hereditary Motor and Sensory Neuropathy

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