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Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...
Duchenne muscular dystrophy Gowers's sign is a medical sign that indicates weakness of the proximal muscles , namely those of the lower limb . The sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength.
Many forms of muscular dystrophy are associated with disorders of the dystrophin-associated protein complex. [6] Muscular dystrophy, the result of mutations in the genes that encode for dystrophin and the associated proteins that binds to it can arise in various forms. [7] The most common form is known as Duchenne muscular dystrophy (DMD). [8]
Becker muscular dystrophy: 300376: DMD: XR: Childhood Distal limbs progressing to generalised weakness A less severe variant of Duchenne muscular dystrophy, [13] affects predominantly boys. Congenital muscular dystrophy: Multiple Multiple AD, AR: At birth Generalised weakness Symptoms include general muscle weakness and possible joint deformities.
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.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
Pseudohypertrophy, or false enlargement, is an increase in the size of an organ due to infiltration of a tissue not normally found in that organ. [1] It is commonly applied to enlargement of a muscle due to infiltration of fat or connective tissue, [2] famously in Duchenne muscular dystrophy.
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]
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