Results 181 to 190 of about 8,751 (233)

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery–Dreifuss Muscular Dystrophy

Journal of Clinical Neuromuscular Disease
Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery–Dreifuss muscular dystrophy type 6.
Chinmayee B. Nagaraj, Cuixia Tian, H. Kushlaf   +2 more
semanticscholar   +1 more source

Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms

Cardiology in the Young, 2021
Emery-Dreifuss muscular dystrophy is a slowly progressive skeletal muscle and joint disorder associated with cardiac complications. Dilated cardiomyopathy was the initial manifestation of Emery-Dreifuss muscular dystrophy in an 8-year-old girl.
Koichi Takamizawa, Ki-sung Kim, H. Ueda
semanticscholar   +1 more source

Emery Dreifuss muscular dystrophy masquerading as limb girdle muscular dystrophy type 2 due to a novel mutation in emerin gene

IP Indian Journal of Neurosciences
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy with frequent life-threatening cardiac complications. It classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy.
Somarajan Anandan, Sajeesh S. Rajendran, Joesni Joy, Sisira Sree Rajan   +3 more
semanticscholar   +1 more source

Orthopedic Deformities in Emery–Dreifuss Muscular Dystrophy

Journal of Pediatric Orthopaedics, 1991
Orthopedic deformities in Emery-Dreifuss muscular dystrophy are discussed based on a study of four patients and an extensive literature review. The condition is characterized by slowly progressive humeroperoneal muscle weakness; ankle equinus, elbow flexion, and neck extensor muscle contractures; paravertebral muscle tightness; and cardiac ...
F, Shapiro, L, Specht
openaire   +2 more sources

COMPREHENSIVE CARDIOVASCULAR THERAPY IN EMERY-DREIFUSS MUSCULAR DYSTROPHY: A CASE REPORT.

Wiadomosci lekarskie, 2023
A 25-year-old male with known EDMD was referred for the cardiology consultation due to symptoms of heart failure. Echocardiography showed decrease left ventricular ejection fraction (LVEF) and therapy with ramipril, torsemide and rivaroxaban was ...
T. V. Chendey, Mykola Rishko, V. I. Chendey   +2 more
semanticscholar   +1 more source

Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery–Dreifuss Muscular Dystrophy Caused by EMD Variants

Muscle and Nerve
Variants in the EMD gene cause Emery–Dreifuss muscular dystrophy type 1 (EDMD1). While the pattern of fat replacement in the legs of patients with EDMD1 is known, the involvement of the trunk and arms remains unclear. This study aimed to characterize the
R. Shimazaki, Satoru Noguchi, Shinichiro Hayashi, Ichizo Nishino   +3 more
semanticscholar   +1 more source

Emery‐Dreifuss muscular dystrophy with unusual features

Muscle & Nerve, 1993
AbstractTwo families with Emery‐Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD.
F, Deymeer, A E, Oge, C, Bayindir, C, Kaymaz, Y, Nişanci, K, Adalet, J R, Yates, C, Ozdemir   +7 more
openaire   +2 more sources

Anaesthetic considerations for a patient with Emery-Dreifuss muscular dystrophy undergoing cardiac resynchronisation therapy with pacemaker implantation.

Anaesthesia Reports
Emery-Dreifuss muscular dystrophy is a rare inherited neuromuscular disorder characterised by early joint contractures, slowly progressive humero-peroneal weakness and cardiac conduction defects or cardiomyopathy.
B. Ng, E. Lim, K. Valchanov
semanticscholar   +1 more source

Emery–Dreifuss muscular dystrophy with cardiac manifestations

British Journal of Hospital Medicine, 2005
An asymptomatic 40-year-old man attended clinic for cardiology assessment before cataract surgery. He had been diagnosed 9 years earlier with a ‘non specified limb-girdle muscular dystrophy’ following investigation for lower limb muscle weakness. Earlier electrocardiograms (ECGs) showed a bradycardic, junctional escape rhythm of 30–40 beats per minute
D, Cullington, J R, Pyatt
openaire   +2 more sources

Mutation analysis in emery-dreifuss muscular dystrophy

Pediatric Neurology, 1999
The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers.
Y, Nevo, M, Al-Lozi, A S, Parsadanian, J L, Elliott, A M, Connolly, A, Pestronk   +5 more
openaire   +2 more sources