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Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3] [7] [8] The onset of muscle weakness typically begins around age four, with rapid progression. [2] Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, [3] which can lead to difficulties in standing up. [3]
DMD: XR: Childhood Distal limbs progressing to generalised weakness, involving respiratory muscles The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking.
Ezutromid is an orally administered small molecule utrophin modulator involved in a Phase 2 clinical trial produced by Summit Therapeutics for the treatment of Duchenne muscular dystrophy (DMD). [1] [2] DMD is a fatal x-linked recessive disease affecting approximately 1 in 5000 males and is a designated orphan disease by the FDA and European ...
The gene affected is the DMD gene, is located on the X chromosome and is inherited in an X-linked recessive pattern. [13] Since women have two X chromosomes, if one X chromosome has the non-working gene, the second X chromosome will have a working copy of the gene to compensate, because of this ability to compensate, women rarely develop symptoms.
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.
DMD Duchenne muscular dystrophy: DP Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) DPT Diphtheria, pertussis, tetanus: DRSP disease Drug-resistant Streptococcus pneumoniae disease DS Down syndrome: DSPS Delayed sleep phase syndrome: DTs Delirium tremens: DVD Developmental verbal dyspraxia: DVT
DMD affects many people in their adolescence, so it is crucial for rehab therapists to be conscious that significant development may occur during this time. [6] Without proper seating and postural support throughout development, deformation may occur.
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.