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Young girl presenting with exercise‐induced myoglobinuria
Author(s) -
Krishnaiah Balaji,
Lee Jennifer Jheesoo,
Wicklund Matthew Paul,
Kaur Divpreet
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25109
Subject(s) - myoglobinuria , girl , medicine , physical medicine and rehabilitation , physical therapy , pediatrics , psychology , rhabdomyolysis , developmental psychology
: 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