Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
Journal of Clinical Neurology
;
: 405-410, 2017.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Biópsia
/
Testes Genéticos
/
Contratura
/
Distrofia Muscular de Emery-Dreifuss
/
Diagnóstico Precoce
/
Distrofia Muscular do Cíngulo dos Membros
/
Diagnóstico
/
Diagnóstico Tardio
/
Exoma
/
Hipertrofia
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2017
Tipo de documento:
Artigo
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