Assessing the Future of Therapies in Development for
Limb Girdle Muscular Dystrophy
Podcast 1: The role of genetic testing
Post-Test/Evaluation

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A Four-year old girl presents with a 6-month history of muscle weakness, creatine kinase = 25,000 U/L, and

elevated ALT (400 U/L) and AST (450 U/L). She experienced normal development until 3 years of age. Family

history is negative for muscular weakness or developmental delays. Neurologic exam shows wide-based gait

and unsteady knees. Further examination reveals poor reflexes and motor strength, positive Gowers’ sign,

and a normal ECG. What additional tests could you request to make a definitive diagnosis of LGMD? (Select all

that apply)

Muscle biopsy

Whole-exome sequencing

Nerve conduction studies

EMG

Karyotype and chromosomal microarray