Results 21 to 30 of about 254,202 (199)

Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype [PDF]

, 2008
Includes bibliographical references (leaves 76-82).The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-
Donald, Kirsten Ann Mary
core   +1 more source

Duchenne Muscular Dystrophy: Symptoms, Management and Prognosis [PDF]

, 2015
There are a number of basic interventions using light, intensive activity to relieve the symptoms of Duchenne Muscular Dystrophy. These interventions relieve any pain caused, address malformations and maintain some basic functional skills such as: 1 ...
Batista, Marco, Ribeiro, Jaime, Honório, Samuel, Martins, Júlio   +3 more
core   +3 more sources

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy [PDF]

Korean Journal of Pediatrics, 2018
PurposeCardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications.
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang   +3 more
doaj   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies [PDF]

, 2010
Includes bibliographical references (leaves 97-115).Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date.
Esterhuizen, Alina
core   +1 more source

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

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, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

A Multidisciplinary Approach to the Anesthetic Management of Patients With Duchenne Muscular Dystrophy. [PDF]

Pediatr Pulmonol
ABSTRACT Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder with multisystem involvement that causes progressive muscular weakness and cardiorespiratory dysfunction. The first comprehensive recommendations regarding anesthetic management are now almost 20 years old and, in the interval, DMD care has evolved.
Racca F, Conti E, Racca G, Barberis L, Birnkrant DJ.   +4 more
europepmc   +2 more sources