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Polyglucosan body disease myopathy: An unusual presentation
Author(s) -
Vucic Steve,
Pamphlett Roger,
Wills Edward J.,
Yiannikas Con
Publication year - 2007
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.20720
Subject(s) - myopathy , presentation (obstetrics) , medicine , disease , clinical neurology , pathology , neuroscience , psychology , surgery
Polyglucosan body disease (PBD) is a slowly progressive adult‐onset glycogen storage disorder that typically affects upper and lower neurons. Myopathy, as a complication of PBD has been reported rarely and clinically manifests as chronic limb‐girdle muscle weakness. We report an unusual case of PBD myopathy presenting as an asymmetric motor syndrome that clinically overlapped with amyotrophic lateral sclerosis, further expanding the phenotype of this disorder. Muscle Nerve, 2007

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