McArdle disease presenting with muscle pain in a teenage girl: The role of whole exome sequencing in neuro-genetic disorders

We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and EMG revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a Neuro-genetics Clinic team. Whole exome sequencing was selected as a first tier test. This testing revealed a known disease causing mutation in the PYGM gene consistent with McArdle disease. We discuss the decision to use whole exome sequencing in diagnostics and the rationale for making this our choice as a first level test modality
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research