Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Emery-Dreifuss Muscular Dystrophy

System/ConcernEvaluationComment
Cardiac
  • EKG
  • Holter-EKG monitoring
  • Echocardiography
  • Cardiac MRI
  • Electrophysiologic study
Respiratory Eval of respiratory function (vital capacity measurement & other pulmonary volume measurements)
Musculoskeletal Eval of joints by PT or orthopedist to determine need for therapiesTherapies may incl physiotherapy, mechanical aids, orthopedic surgeries.
Metabolic functions Eval of metabolic functions (glycemia, insulinemia, cholesterolemia, trigylceridemia)Rarely, a person w/LMNA EDMD has overlapping LMNA phenotype & partial lipodystrophy features, requiring careful metabolic assessment [Garg et al 2002, van der Kooi et al 2002].
Other Consultation w/clinical geneticist &/or genetic counselor

PT = physical therapist

From: Emery-Dreifuss Muscular Dystrophy

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