Young girl presenting with exercise-induced myoglobinuria

Balaji Krishnaiah, Jennifer Jheesoo Lee, Matthew Paul Wicklund, Divpreet Kaur

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Introduction: The sarcoglycanopathies are a heterogeneous group of autosomal recessive limb-girdle muscular dystrophies that cause varying degrees of progressive proximal muscle weakness. Methods: We describe the case of a Caucasian girl who presented with exercise intolerance, myalgia, and dark urine. Onset of symptoms was at age 4, and she had myalgia with physical activity throughout childhood. Creatine kinase levels were as high as 18,000. Results: Immunostaining of a muscle biopsy showed mildly diminished alpha sarcoglycan staining, and SGCA gene sequencing revealed n.C229T; p.Arg77Cys (R77C) and n.C850T; p.Arg284Cys (R284C), which is associated with alpha sarcoglycanopathy. Conclusions: This patient presented with exercise intolerance, myoglobinuria, and almost normal muscle strength into adolescence, which is uncommon in sarcoglycanopathies. This uncommon presentation should be kept in mind, so that early recognition and intervention may prevent future comorbidities and help preserve the quality of life. Muscle Nerve 54: 161–164, 2016.

Original languageEnglish (US)
Pages (from-to)161-164
Number of pages4
JournalMuscle and Nerve
Volume54
Issue number1
DOIs
StatePublished - Jul 1 2016

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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