Hi, help us enhance your experience
Hi, help us enhance your experience
Hi, help us enhance your experience
646 Views
eMediNexus 29 October 2019
LMNA-related muscular dystrophy can be associated with life-threatening cardiac complications. It is difficult to make a diagnosis of LMNA-related muscular dystrophy on the basis of clinical features.
Researchers in Korea reviewed the clinical phenotypes of 14 children with LMNA variants, with focus on the cardiac function and genotypes.Most patients were found to have motor developmental delay or gait abnormalities. Eight patients (57%) had prominent neck extensor weakness or contractures. All patients were noted to have ankle contractures in an early stage. Regular cardiac surveillance detected dysrhythmias in 57% patients at a mean age of 14 years. All patients had missense variants.No clear phenotype-genotype correlations could be detected though.
The review suggested that early diagnosis of LMNA-related muscular dystrophy enables cardiac surveillance, with a potential to prevent cardiac mortality in children.
Source: Choi SA, Cho A, Kim SY, et al. The importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.Muscle Nerve. 2019 Sep 9.
{{Article_Title}}
{{Article_Author}}
{{Article_Title}}
{{Article_Author}}