Table 6.

Recommended Multidisciplinary Team Surveillance for Individuals with Dysferlinopathy

System/ConcernEvaluationFrequency
Neuromuscular Evaluate disease progression & coordinate care.At least annually
Rehabilitation
medicine 		Eval & monitoring of:
  • Muscle strength testing using a quantitative scale (e.g., MMT, hand-held dynamometry, QMA 1) to evaluate progressive muscle involvement
  • Physical function (e.g., 6-min walk test, AMAT 2)
  • Activities of daily living
At least annually
PT Eval & mgmt for balance & need for AFOs, cane, walker, wheelchair. & powerchairAt least annually, or more frequently based on needs
OT Eval & mgmt of fine motor skills & hand function, such as Jebsen Hand Function Test 3At least annually
Respiratory PFTs incl supine & sitting spirometry, MIP, MEP on affected persons at advanced stages of diseaseAs needed, if symptomatic or abnormal PFTs
Cardiac Follow up not needed unless symptomatic or findings on initial eval were abnormal
Family support/
resources 		Assess social & emotional support & stimulation.At least annually

AFOs = ankle-foot orthoses; AMAT = Adult Myopathy Assessment Tool; MEP = maximal expiratory pressure; MIP = maximal inspiratory pressure; MMT = manual muscle testing; OT = occupational therapy; PFTs = pulmonary function tests; PT = physical therapy; QMA = Quantitative Muscle Assessment

1.
2.
3.

From: Dysferlinopathy

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