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Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions. [4] and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early. [7] [8]
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.
Peter Emil Becker (23 November 1908 – 7 October 2000) was a German neurologist, psychiatrist and geneticist. [1] He is remembered for his studies of muscular dystrophies. Becker's muscular dystrophy (OMIM 300376) and Becker myotonia (OMIM 255700) are named after him.
Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, [1] whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually extremely rare – genetic disorders.
Vertex didn't end its spending spree with exclusive rights to potential new muscular dystrophy treatments from CRISPR; it also splurged on a privately held gene editing start-up with a promising ...
(formerly Emery–Dreifuss muscular dystrophy 6, X-linked) Proximal muscles Variable (late childhood to adult-onset) Muscle hypertrophy precedes muscle atrophy. Biopsy shows myopathic or dystrophic changes, rimmed vacuoles, cytoplasmic bodies, and granulofilamentous material. [29] Emery–Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
The symptoms of Bethlem myopathy may overlap with other conditions including Emery–Dreifuss muscular dystrophy, congenital muscular dystrophies, limb girdle muscular dystrophies, FHL1-related myopathies (X-linked myopathy with postural muscle atrophy, reducing body myopathy, and scapuloperoneal myopathy), and some forms of Ehlers–Danlos ...
Delandistrogene moxeparvovec, sold under the brand name Elevidys, is a recombinant gene therapy used for the treatment of Duchenne muscular dystrophy. [3] It is designed to deliver into the body a gene that leads to production of Elevidys micro-dystrophin that contains selected domains of the dystrophin protein present in normal muscle cells. [3]