Palliative care services in families of males with muscular dystrophy: Data from MD STARnet
SAGE Open Medicine, 2019 Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews +6 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core +1 more source
Becker muscular dystrophy with dilated cardiomyopathy: A case report
Clinical Case Reports, 2021 Becker muscular dystrophy (BMD) complicated with DCM is rare in our daily clinical practice. BMD serves an etiology for heart failure patients due to DCM. Multidisciplinary management is required in this case.
Yongliang Chen +3 more
doaj +1 more source
Facioscapulohumeral Muscular Dystrophy
, 2022 Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
Pakula, Anna +3 more
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Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2021 Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutation of the dystrophin gene. Cardiac involvement in BMD is frequent and represents the foremost cause of mortality.
Pudhiavan Arunachalam +3 more
doaj +1 more source
PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]
, 2007 The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C. +11 more
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Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy [PDF]
, 2023 Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few DMD gene variants have been identified in ...
Stephanie Hilton +11 more
core +2 more sources
Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review
European Psychiatry, 2023 Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
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TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
Cell Reports, 2015 The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo +13 more
doaj +1 more source
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
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