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Search Results for "Ullrich Muscular Dystrophy Life Expectancy"

07:09 EDT 30th July 2014 | BioPortfolio

Original Source: The collagen VI-related myopathies: muscle meets its matrix.

The collagen VI-related myopathy known as Ullrich congenital muscular dystrophy is an early-onset disease that combines substantial muscle weakness with striking joint laxity and progressive contractures. Patients might learn to walk in early childhood; however, this ability is subsequently lost, concomitant with the development of frequent nocturnal respiratory failure. Patients with intermediate phenotypes of collagen VI-related myopathy display a lesser degree of weakness and a longer period of ambulatio...

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Duchenne muscular dystrophy - DMD

Duchenne muscular dystrophy (DMD) is a severely debilitating childhood neuromuscular disease that affects 1 in 3,500 live male births. This rare disease is caused by mutations in the dystrophin gene...

Exon Skipping in development for DMD

The dystrophin gene is the largest gene in the body, consisting of 79 exons. Exons are small sequences of genetic code which, via an intermediate step involving RNA, lead to the assembly of sections...

Progressive muscular atrophy

Spinal Muscular Atrophies

Orphan Indications

Examples of Ophan Drug Indications include: Anaemia, sickle cell Cystic fibrosis (CF) Duchenne muscular dystrophy Glioma Graft vs host disease (GvHD) Hepatoma, liver cancer Hodgkin Lymphoma...

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ED Drug Restores Blood Flow in Muscular Dystrophy

Cedars-Sinai Heart Institute researchers have found that a commonly prescribed drug restores blood flow to oxygen-starved muscles of boys with Duchenne muscular dystrophy, a genetic muscle-wasting dis...

Common drug restores blood flow in deadly form of muscular dystrophy: Results from 10-patient case study

Researchers have found that a commonly prescribed drug restores blood flow to oxygen-starved muscles of boys with Duchenne muscular dystrophy, a genetic muscle-wasting disease that rarely is seen in g...

Commonly used drug restores blood flow to oxygen-starved muscles of boys with muscular dystrophy

Cedars-Sinai Heart Institute researchers have found that a commonly prescribed drug restores blood flow to oxygen-starved muscles of boys with Duchenne muscular dystrophy, a genetic muscle-wasting dis...

Cedars-Sinai study: Common drug restores blood flow in deadly form of muscular dystrophy

(Cedars-Sinai Medical Center) Cedars-Sinai Heart Institute researchers have found that a commonly prescribed drug restores blood flow to oxygen-starved muscles of boys with Duchenne muscular dystrophy...

New muscular dystrophy drug's chances for approval improve

(HealthDay)—A new drug to treat Duchenne muscular dystrophy may be closer to becoming the first approved treatment for the disease.

HypeWatch: ED Drugs for Muscular Dystrophy?

(MedPage Today) -- A new study suggests that the erectile dysfunction drug tadalafil (Cialis) could be helpful in muscular dystrophy, but it's still a long way from being proven.

New knowledge about muscular dystrophy uncovered

A previously unknown function of a cellular enzyme that can disperse toxic aggregates in the cells of patients with muscular dystrophy has been uncovered by researchers. The most common form of muscul...

New knowledge about muscular dystrophy

(Aarhus University) Researchers at Aarhus University have revealed a previously unknown function of a cellular enzyme that can disperse toxic aggregates in the cells of patients with muscular dystroph...

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Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studie...

Emergent Presentation of a Cat with Dystrophin-Deficient Muscular Dystrophy.

This report describes a case of feline dystrophin-deficient muscular dystrophy (DDMD) with an atypical clinical presentation. A novel gene mutation is reported to be responsible for dystrophin-deficie...

The link between stress disorders and autonomic dysfunction in muscular dystrophy.

Muscular dystrophy is a progressive disease of muscle weakness, muscle atrophy and cardiac dysfunction. Patients afflicted with muscular dystrophy exhibit autonomic dysfunction along with cognitive im...

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.

Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular...

Collagen Type VI Myopathies.

Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate p...

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