Misdiagnosis is an important factor for diagnostic delay in McArdle disease

Misdiagnosis is an important factor for diagnostic delay in McArdle disease

Highlights • Correct diagnosis is rarely identified before adulthood in McArdle Disease • A high frequency of misdiagnosis was seen in McArdle Disease • Misdiagnosis occurred more frequent during childhood years • Misdiagnosis delays the implementation of appropriate advice and management

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Bibliographische Detailangaben
Veröffentlicht in:Neuromuscular disorders : NMD 2017-09, Vol.27 (9), p.852-855
Hauptverfasser: Scalco, Renata Siciliani, MD, Morrow, Jasper M, FRACP, Booth, Suzanne, BScN, Chatfield, Sherryl, MS, Godfrey, Richard, PhD, Quinlivan, Ros, MBBS, MD
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Aged
Delayed Diagnosis
Diagnostic Errors
Exercise intolerance
Female
Glycogen storage disease type V
Glycogen Storage Disease Type V - diagnosis
Growing pains
Humans
Male
McArdle disease
Middle Aged
Myoglobinuria
Neurology
Rhabdomyolysis
Young Adult
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Beschreibung
Zusammenfassung:Highlights • Correct diagnosis is rarely identified before adulthood in McArdle Disease • A high frequency of misdiagnosis was seen in McArdle Disease • Misdiagnosis occurred more frequent during childhood years • Misdiagnosis delays the implementation of appropriate advice and management
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2017.04.013