Diagnostic delay in patients with FKRP-related muscular dystrophy

•There is a diagnostic delay of 6.5 years for FKRP-related dystroglycanopathy.•Diagnostic delay is longest for those whose initial symptom is myoglobinuria.•Diagnostic delay has decreased each decade since 1970. Diagnostic journey for people with FKRP mutations participating in a dystroglycanopathy...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2021-12, Vol.31 (12), p.1235-1240
Hauptverfasser:	Coffey, Lauren N., Stephan, Carrie M., Zimmerman, M.B., Decker, Chyan K., Mathews, Katherine D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Child Delayed Diagnosis Diagnosis Diagnostic delay Dystroglycanopathy Female FKRP Humans Limb-girdle muscular dystrophy Male Middle Aged Muscle Weakness - etiology Muscle Weakness - physiopathology Muscular Dystrophies - complications Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Muscular Dystrophies - physiopathology Myoglobinuria - etiology Pentosyltransferases - genetics Weakness Young Adult
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