Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
Journal of Clinical Neurology
;
: 405-410, 2017.
Article
in English
| WPRIM
| ID: wpr-88550
ABSTRACT
BACKGROUND AND PURPOSE:
The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis.METHODS:
We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy.RESULTS:
Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients.CONCLUSIONS:
Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Biopsy
/
Genetic Testing
/
Contracture
/
Muscular Dystrophy, Emery-Dreifuss
/
Early Diagnosis
/
Muscular Dystrophies, Limb-Girdle
/
Diagnosis
/
Delayed Diagnosis
/
Exome
/
Hypertrophy
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2017
Type:
Article
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