Duchenne Muscular Dystrophy Wikipedia

Duchenne muscular dystrophy - Wikipedia.

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look ....

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Muscular dystrophy - Wikipedia.

Causes. The majority of muscular dystrophies are inherited; the different muscular dystrophies follow various inheritance patterns (X-linked, autosomal recessive or autosomal dominant).In a small percentage of patients, the disorder may have been caused by a de novo (spontaneous) mutation.. Diagnosis. The diagnosis of muscular dystrophy is based on the results of muscle ....

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Congenital muscular dystrophy - Wikipedia.

Congenital muscular dystrophy; ... (FKTN) gene, which is the second most common type of muscular dystrophy in Japan after Duchenne muscular dystrophy. The founder mutation of FCMD is a 3- kilo base pair retrotransposon insertion in the noncoding region of FKTN, leading to muscle weakness, abnormal eye function, ....

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Becker muscular dystrophy - Wikipedia.

Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis.It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin.Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a ....

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Limb–girdle muscular dystrophy - Wikipedia.

Signs and symptoms. By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, meaning weakness of the muscles on or close to the torso that worsens over time. Explicitly, LGMD preferentially affects muscles of the hip girdle, thigh, shoulder girdle, and/or upper arm. The muscle weakness is generally symmetric. Usually, the hip girdle ....

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Distrofia muscular de Duchenne - Wikipedia, la enciclopedia libre.

La distrofia muscular de Duchenne (DMD) o distrofia muscular progresiva es una enfermedad hereditaria con un patron de herencia de tipo recesivo ligado al cromosoma X que produce una deficiencia muscular progresiva y rapida que conduce a la discapacidad fisica y a una muerte prematura debido a complicaciones respiratorias y cardiacas. Es la enfermedad ....

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Skeletal muscle - Wikipedia.

Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system and typically are attached by tendons to bones of a skeleton. The muscle cells of skeletal muscles are much longer than in the other types of muscle tissue, and are often known as muscle fibers. The muscle tissue of a skeletal muscle is striated - having a striped appearance due to ....

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Emery–Dreifuss muscular dystrophy - Wikipedia.

Emery-Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement (skeletal muscles It is named after Alan Eglin H. Emery and Fritz E. Dreifuss. Signs and symptoms. Humeral muscle atrophy and elbow contracture in person ....

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Ziekte van Duchenne - Wikipedia.

De ziekte van Duchenne of spierdystrofie van Duchenne (DMD) is een aangeboren en erfelijke vorm van spierdystrofie.De ziekte treft voornamelijk mannen aangezien het recessieve gen dat aan de basis van de aandoening ligt op het X-chromosoom ligt en mannen slechts een enkel X-chromosoom hebben. Zoals bij andere X-gebonden aandoeningen, wordt deze via de moeder ....

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Progressive muscular atrophy - Wikipedia.

Progressive muscular atrophy (PMA), also called Duchenne-Aran disease and Duchenne-Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.. PMA is classified among motor neuron diseases (MND) where it is thought to account for around 4% of all MND ....

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Facioscapulohumeral muscular dystrophy - Wikipedia.

Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, ....

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Muskeldystrophie Duchenne – Wikipedia.

Die Muskeldystrophie des Typs Duchenne (auch Duchenne-Muskeldystrophie und/oder DMD genannt) ist die haufigste muskulare Erbkrankheit im Kindesalter. Sie tritt etwa in einer Frequenz von 1:3600 bis 1:6000 auf. Aufgrund des X-chromosomal rezessiven Erbganges sind fast nur Jungen betroffen. Auch weibliche Trager dieses Genes konnen jedoch Symptome zeigen, z. B. ....

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Myopathie de Duchenne — Wikipédia.

La myopathie de Duchenne (DMD) est la plus grave des manifestations en rapport avec un deficit de la dystrophine qui permet aux muscles de resister a l'effort : sans elle, les fibres musculaires degenerent. C'est donc une maladie evolutive. La maladie peut toucher tous les muscles dont le muscle cardiaque.Cette cardiomyopathie est la principale responsable de la ....

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Distrofia di Duchenne - Wikipedia.

La distrofia di Duchenne e la piu frequente e la meglio conosciuta tra le distrofie muscolari dell'infanzia. Ha un decorso relativamente rapido e attivo. Essa e anche detta distrofia muscolare generalizzata dell'infanzia. ... (nonsense mutation Duchenne Muscular Dystrophy, nmDMD) in soggetti ancora deambulanti di eta superiore ai 5 anni..

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Antisense therapy - Wikipedia.

Antisense therapy is a form of treatment that uses antisense oligonucleotides (ASOs) to target messenger RNA (mRNA). ASOs are capable of altering mRNA expression through a variety of mechanisms, including ribonuclease H mediated decay of the pre-mRNA, direct steric blockage, and exon content modulation through splicing site binding on pre-mRNA. Several ASOs have ....

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The Jerry Lewis MDA Labor Day Telethon - Wikipedia.

The MDA Labor Day Telethon was an annual telethon held on (starting the night before and throughout) Labor Day in the United States to raise money for the Muscular Dystrophy Association (MDA). The Muscular Dystrophy Association was founded in 1950 with hopes of gaining the American public's interest. The show was hosted by comedian, actor, singer and ....

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X-linked recessive inheritance - Wikipedia.

Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive muscle weakness of the legs and pelvis. X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme. It is fairly rare, affecting one in 2,000 to one in 6,000 males..

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Multiplex polymerase chain reaction - Wikipedia.

Multiplex polymerase chain reaction (Multiplex PCR) refers to the use of polymerase chain reaction to amplify several different DNA sequences simultaneously (as if performing many separate PCR reactions all together in one reaction). This process amplifies DNA in samples using multiple primers and a temperature-mediated DNA polymerase in a thermal cycler..

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X-linked intellectual disability - Wikipedia.

X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.. As with most X-linked disorders, males are more heavily affected than females. Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.. Unlike many other types of intellectual disability, ....

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Dystrophine — Wikipédia.

Un defaut dans l'expression de la dystrophine entraine des pathologies plus ou moins graves, dites dystrophinopathies, dont les myopathies de Duchenne et de Becker. Le gene codant la dystrophine, DMD, est le plus long gene chez l'humain. Il est porte par le chromosome X et fait 2 300 kb. Il code un ARNm de 14 Kb [4]. Il contient 79 exons et ....

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List of neurological conditions and disorders - Wikipedia.

This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome).There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as mental disorders or in other ways..

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Spinal and bulbar muscular atrophy - Wikipedia.

Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord and muscle wasting.. The condition is associated with mutation of the androgen receptor (AR) gene and is inherited in an ....

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Deoxyadenosine triphosphate - Wikipedia.

Deoxyadenosine triphosphate (dATP) is a nucleotide used in cells for DNA synthesis (or replication), as a substrate of DNA polymerase. It is classified as a purine nucleoside triphosphate, with its chemical structure consisting of a deoxyribose sugar molecule bound to an adenine and to three phosphate groups.It differs from the energy-transferring molecule ....

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Kevin Weisman - Wikipedia.

Kevin Glen Weisman (born December 29, 1970) is an American film, television and stage actor. Career highlights thus far include his lauded portrayal of Marshall Flinkman on the critically acclaimed, J.J. Abrams' television series, Alias, which aired for five seasons (2001-2006) on ABC, Kives on the HBO television series and movie Hello Ladies (2013-14), Ray Spiewack for three ....

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Morpholino - Wikipedia.

Delivery into adult tissues is usually difficult, though there are a few systems allowing useful uptake of unmodified Morpholino oligos (including uptake into muscle cells with Duchenne muscular dystrophy or the vascular endothelial cells stressed during balloon angioplasty). Though they permeate through intercellular spaces in tissues ....

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