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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with HMERF

System/ConcernEvaluationComment
Neuromuscular Neuromuscular assessment by neurologist w/expertise in inherited muscle disorders
PTAssess lower limb function & general mobility.
OTAssess for need for home &/or office adaptations & mobility aids.
Respiratory Assess pulmonary function & need for nocturnal ventilator support.
Miscellaneous/
Other
Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Social services consultationAssist w/workplace adaptations &/or access to social/disability benefits.

OT = occupational therapy; PT = physical therapy

From: Hereditary Myopathy with Early Respiratory Failure

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