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Duchenne muscular dystrophy is a rare progressive disease that eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Life expectancy is estimated to be around 25–26, [18] [59] but this varies. People born with Duchenne muscular dystrophy after 1990 have a median life expectancy of approximately ...
Duchenne muscular dystrophy is a rare disease that primarily affects boys. [5] It is caused by low levels of a muscle protein called dystrophin. [5] The lack of dystrophin causes progressive muscle weakness and premature death. [5] The most common side effects include upper respiratory tract infections, cough, fever, headache, joint pain and ...
Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene; D – Deletion of a gene or genes; Dup - Duplication of a gene or genes; C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length
Many affected people will eventually become unable to walk [2] and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. Muscular dystrophy was first described in the 1830s by Charles Bell. [2] The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph-meaning "nourish". [2]
Primary mitochondrial myopathies are inherited, while secondary mitochondrial myopathies may be inherited (e.g. Duchenne's muscular dystrophy) [3] or environmental (e.g. alcoholic myopathy [4] [5]). When it is an inherited primary disease, it is one of the metabolic myopathies. [6] [4]
Prevalence of some single-gene disorders [10] Disorder prevalence (approximate) Autosomal dominant Familial hypercholesterolemia: 1 in 500 [11] Myotonic dystrophy type 1: 1 in 2,100 [12] Neurofibromatosis type I: 1 in 2,500 [13] Hereditary spherocytosis: 1 in 5,000 Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15 ...
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]
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 ...