Journal of Clinical Neurology  2017;13(4):405-410

doi:10.3988/jcn.2017.13.4.405

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

Younggun LEE 1 ; Jung Hwan LEE ; Hyung Jun PARK ; Young Chul CHOI

Affiliations

+expand

Keywords

lamin A/C; limb-girdle muscular dystrophy type 1B; emery-dreifuss muscular dystrophy

Country

Republic of Korea

Language

English

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.