Duchenne muscular dystrophy overview: Difference between revisions
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==Classification== | ==Classification== | ||
There is no established system for the classification of Duchenne [[muscular dystrophy]] but according to the Functional Classification System for DMD (AFCSD), there are 5 stages of Duchenne [[muscular dystrophy]] based on the gross motor function. | |||
==Pathophysiology== | ==Pathophysiology== | ||
It is understood that Duchenne [[muscular dystrophy]] is the result of [[genetic mutation]] of [[dystrophin]] [[gene]] located on [[X-chromosome]]. Duchenne [[muscular dystrophy]] arises from [[muscle cells]], which are involved in [[Muscle contraction|muscular contraction]]. [[Dystrophin]] [[protein]] is a part of the [[protein]] complex named [[dystrophin-associated protein complex]] ([[Dystrophin-associated protein complex|DAPC]]) which acts as an anchor that connect the intracellular [[cytoskeleton]] proteins such as [[Dystrobrevin|α-dystrobrevin]], [[syncoilin]], [[synemin]], [[sarcoglycan]], [[dystroglycan]], and [[sarcospan]] to the [[extracellular matrix]]. On microscopic [[histopathological]] analysis, replacement of [[muscle]] by fat and [[connective tissue]], [[muscle]] [[degeneration]], [[muscle]] [[regeneration]], and opaque [[hypertrophic]] fibers are characteristic findings of Duchenne [[muscular dystrophy]]. | |||
==Causes== | ==Causes== | ||
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==Risk Factors== | ==Risk Factors== | ||
The most potent risk factor in the development of Duchenne muscular dystrophy is consanguinity marriage. | |||
==Screening== | ==Screening== | ||
There is insufficient evidence to recommend routine screening for Duchenne muscular dystrophy. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
If left untreated, 100% of patients with Duchenne muscular dystrophy may progress to develop heart failure, respiratory failure, and death. Common complications of Duchenne muscular dystrophy include [[cardiomyopathy]] with [[heart failure]], [[respiratory failure]], [[cataracts]], decreased movement, [[depression]], [[contractures]], mental impairment, scoliosis, and failure to thrive. Prognosis is generally poor, and the mortality rate of patients with Duchenne muscular dystrophy is approximately 100%. | |||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
Revision as of 12:24, 8 May 2019
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Duchenne muscular dystrophy Microchapters |
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Differentiating Duchenne muscular dystrophy from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Duchenne muscular dystrophy overview On the Web |
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American Roentgen Ray Society Images of Duchenne muscular dystrophy overview |
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Risk calculators and risk factors for Duchenne muscular dystrophy overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.
Overview
Historical Perspective
Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne, a French neurologist, in 1860s. The association between genetic mutations and Duchenne muscular dystrophy was made in 1986. In 1987, dystrophin gene on X chromosome were first implicated in the pathogenesis of Duchenne muscular dystrophy.
Classification
There is no established system for the classification of Duchenne muscular dystrophy but according to the Functional Classification System for DMD (AFCSD), there are 5 stages of Duchenne muscular dystrophy based on the gross motor function.
Pathophysiology
It is understood that Duchenne muscular dystrophy is the result of genetic mutation of dystrophin gene located on X-chromosome. Duchenne muscular dystrophy arises from muscle cells, which are involved in muscular contraction. Dystrophin protein is a part of the protein complex named dystrophin-associated protein complex (DAPC) which acts as an anchor that connect the intracellular cytoskeleton proteins such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan to the extracellular matrix. On microscopic histopathological analysis, replacement of muscle by fat and connective tissue, muscle degeneration, muscle regeneration, and opaque hypertrophic fibers are characteristic findings of Duchenne muscular dystrophy.
Causes
Differentiating Xyz from Other Diseases
Duchenne muscular dystrophy must be differentiated from other diseases that cause muscle weakness, hypotonia, or paralysis such as adult botulism, infant botulism, Guillain-Barre syndrome, Eaton Lambert syndrome, myasthenia gravis, electrolyte disturbance, organophosphate toxicity, tick paralysis, tetrodotoxin poisoning, stroke, poliomyelitis, transverse myelitis, neurosyphilis, multiple sclerosis exacerbation, amyotrophic lateral sclerosis, and inflammatory myopathy.
Epidemiology and Demographics
Risk Factors
The most potent risk factor in the development of Duchenne muscular dystrophy is consanguinity marriage.
Screening
There is insufficient evidence to recommend routine screening for Duchenne muscular dystrophy.
Natural History, Complications, and Prognosis
If left untreated, 100% of patients with Duchenne muscular dystrophy may progress to develop heart failure, respiratory failure, and death. Common complications of Duchenne muscular dystrophy include cardiomyopathy with heart failure, respiratory failure, cataracts, decreased movement, depression, contractures, mental impairment, scoliosis, and failure to thrive. Prognosis is generally poor, and the mortality rate of patients with Duchenne muscular dystrophy is approximately 100%.