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Becker muscular dystrophy; Other names: Benign pseudohypertrophic muscular dystrophy [1] X-linked recessive is the manner in which this condition is inherited: Specialty: Neurology Symptoms: Severe upper extremity muscle weakness, [2] Toe-walking [3] Causes: Mutations in DMD gene [4] Diagnostic method: Neurological exam, muscle exam [3] Treatment
> 30, including Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb–girdle muscular dystrophy, myotonic dystrophy [1] [2] Causes: Genetic (X-linked recessive, autosomal recessive, or autosomal dominant) [2] Diagnostic method: Genetic testing [2] Treatment
Biostrophin is a drug which may serve as a vehicle for gene therapy, in the treatment of Duchenne and Becker muscular dystrophy. [1]As mutations in the gene which codes for the protein dystrophin is the underlying defect responsible for both disorders, biostrophin will deliver a genetically-engineered, functional copy of the gene at the molecular level to affected muscle cells. [1]
“Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies,” the National Library of Medicine says. “Mutations in the dystrophin gene lead to ...
In 1986, MDA-funded researcher Louis M. Kunkel identified the dystrophin gene, the gene for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). [51] MDA funded the first gene therapy trial in 1999, followed by the first vector based gene therapy trial for DMD in 2006. [52]
Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. [1] [2] [3] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy.
Gowers's sign is classically seen in Duchenne muscular dystrophy where it is mostly evident at 4–6 years, but also presents itself in centronuclear myopathy, myotonic dystrophy and various other conditions associated with proximal muscle weakness, including Becker muscular dystrophy, dermatomyositis and Pompe disease. For this maneuver, the ...
The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 ("MD CARE Act", Pub. L. 107–84 (text), H.R. 717, 115 Stat. 823, enacted December 18, 2001) amended the Public Health Service Act to provide for research with respect to various forms of muscular dystrophy, including Duchenne, Becker, limb girdle, congenital ...
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