Results 91 to 100 of about 54,841 (223)

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
doaj   +1 more source

Immunohistochemical alterations of dystrophin in congenital muscular dystrophy Alterações imuno-hístoquímicas da distrofina na distrofia muscular congênita

Arquivos de Neuro-Psiquiatria, 1995
The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody.
Lineu Cesar Werneck, Eduardo Bonilla
doaj   +1 more source

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +1 more source

Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types, Understanding and managing the condition: A practical guide for familiesBy Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Lily Collison, and Cheryl Tveit Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2025, £45.00 (paperback), £10.00 (eBook), pp. 316, ISBN: 9781952181214

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 295-296, February 2026.
Brian Snyder
wiley   +1 more source

Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy

Journal of Pediatric Rehabilitation Medicine, 2009
Duchenne muscular dystrophy is is the most common form of the childhood muscular dystrophies. It follows a predictable clinical course marked by progressive skeletal muscle weakness, lost of ambulation before teen-age and death in early adulthood ...
Virginia Spehrs-Ciaffi, Jean William Fitting, Jacques Cotting, Pierre-Yves Jeannet   +3 more
doaj   +1 more source

Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy

Nutrients, 2018
The aim of this study was to determine the response to an oral glucose tolerance test (OGTT) in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), and to investigate whether body composition contributes to any ...
E. L. Bostock, Bryn T Edwards, Matthew F. Jacques, Jake T S Pogson, N. Reeves, G. Onambélé-Pearson, C. Morse   +6 more
semanticscholar   +1 more source

A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients

Cell Transplantation, 2013
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch., Hemangi Sane, Prerna Badhe, Nandini Gokulchandran, Pooja Kulkarni, Mamta Lohiya, Hema Biju, V. C. Jacob   +7 more
doaj   +1 more source

Elevation of transaminases. What if not the liver?

Лечащий Врач
Background. According to Russian studies, the average age of Duchenne muscular dystrophy diagnosis is 7-8 years. This is because, on one hand, Duchenne muscular dystrophy is a rare disease, and a doctor may never see it throughout their clinical practice.
I. V. Sharkova
doaj   +1 more source

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

Journal of Neuromuscular Diseases, 2018
Background: Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult.
M. Mori-Yoshimura, S. Mitsuhashi, Harumasa Nakamura, H. Komaki, K. Goto, N. Yonemoto, F. Takeuchi, Y. Hayashi, M. Murata, Yuji Takahashi, I. Nishino, S. Takeda, E. Kimura   +12 more
semanticscholar   +1 more source

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient

Chinese Medical Journal, 2017
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations.
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu   +3 more
doaj   +1 more source