Journal of the Bahrain Medical Society
Year 2021, Volume 33, Issue 4, Pages 24-28
https://doi.org/10.26715/JBMS.33_2021_4_6Mary Lynch1*, Vinayak Vadgaonkar2, Rajesh Jayakumar3, Cristina Skrypnyk4
1Consultant Cardiologist, Mohammed bin Khalifa bin Salman al Khalifa Cardiac Centre, Bahrain.
2Chief Resident Cardiology, Mohammed bin Khalifa bin Salman al Khalifa Cardiac Centre, Bahrain.
3Chief Resident Cardiology, Mohammed bin Khalifa bin Salman al Khalifa Cardiac Centre, Bahrain.
4Assistant Professor, College of Medical Sciences, Molecular Medicine Dept, Al Jawhara Center, Arabian Gulf University, Bahrain.
*Corresponding author: Professor Mary Lynch MB,BCh, BAO, FRCP(Ire), Consultant Cardiologist, Mohammed bin Khalifa bin Salman al Khalifa Cardiac Centre, Bahrain, Email: maltareif@mkcc.bh, Tel: + (973) 39625652.
Received date: 18 June 2021; Accepted date: 10 August 2021; Published date: December 31, 2021
Abstract
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive wasting and weakness of the skeletal muscles. The clinical spectrum ranges from early presentation with severe clinical features in childhood to onset in adulthood with less severe clinical symptoms and slow progression. This frequently raises difficulties in diagnosis. The predominant features may be cardiac, and this may lead to a complex diagnosis. Emery Driefuss Muscular dystrophy (EDMD) is a rare form of limb girdle muscular dystrophy. The prevalence is less than 1:100,000 individuals. The condition may be associated with significant muscular cardiac abnormalities which is responsible for mortality in these patients. The authors describe a case of hypertrophic cardiomyopathy in which limb girdle muscular dystrophy was suspected and subsequently confirmed by genetic studies as part of the phenotypic spectrum of Xlinked EDMD. This is the first diagnosed case of EDMD in Bahrain.
Keywords: Bahrain, Hypertrophic Cardiomyopathy, Limb-girdle muscular dystrophies, Muscular dystrophies, Skeletal muscles