Journal article
Diagnostic delay in patients with FKRP-related muscular dystrophy
Neuromuscular disorders : NMD, Vol.31(12), pp.1235-1240
12/2021
DOI: 10.1016/j.nmd.2021.08.013
PMCID: PMC8692399
PMID: 34857438
Abstract
•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 natural history study (n = 68; NCT00313677) was analyzed. Earliest symptoms and age at muscular dystrophy diagnosis were abstracted from subject-reported medical history and record review. Initial signs/symptoms were classified as chronic motor dysfunction (e.g., delayed motor milestones, weakness, falling; n = 40, 59%), elevated transaminases (n = 7, 10%), or acute/intermittent symptoms (myoglobinuria, myalgia, febrile illness-associated acute weakness; n = 21, 31%). Median time from sign/symptom onset to diagnosis was 6.5 years and differed by symptom group: 7.5 years for motor group, 9 years for acute/intermittent group, and 4 years for elevated transaminases group. The sign/symptom category that most commonly resulted in a diagnosis was chronic motor dysfunction (n = 45). Of those without clear weakness as first symptom (n = 55), 36.4% were not diagnosed with MD until weakness became apparent. Median time to diagnosis was shortest for those with febrile illness-associated acute weakness (0.25 years). Median time from first sign/symptom to MD diagnosis has decreased incrementally from 18.8 years for those with onset in the 1970s to < 10 years for symptom onset occurring after 2000. Awareness of disease presentation variability will aid in earlier diagnosis, which is increasingly important with treatments in development.
Details
- Title: Subtitle
- Diagnostic delay in patients with FKRP-related muscular dystrophy
- Creators
- Lauren N Coffey - University of IowaCarrie M Stephan - University of IowaM.B Zimmerman - University of IowaChyan K Decker - University of IowaKatherine D Mathews - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.31(12), pp.1235-1240
- DOI
- 10.1016/j.nmd.2021.08.013
- PMID
- 34857438
- PMCID
- PMC8692399
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- Elsevier B.V
- Language
- English
- Date published
- 12/2021
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
- Record Identifier
- 9984227043002771
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