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Search Results for "Ullrich Muscular Dystrophy Life Expectancy"

20:05 EDT 20th April 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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Pharmacological Prospects for Duchenne Muscular Dystrophy

Recent months have seen exciting developments regarding novel therapeutic agents for Duchenne muscular dystrophy. Where do we stand in finding an effective treatment? Current Opinion in Neurology

Scientists uncover most detailed picture yet of muscular dystrophy defect then design targeted new drug candidates

Scientists have revealed an atomic-level view of a genetic defect that causes a form of muscular dystrophy, myotonic dystrophy type 2, and have used this information to design drug candidates with pot...

Treating Duchenne muscular dystrophy

(Medical Xpress)—Reviving a gene which is 'turned down' after birth could be the key to treating Duchenne muscular dystrophy (DMD), an incurable muscle-wasting condition that affects one in every 3,...

Treatment of dystrophin cardiomyopathies

Dystrophinopathies, such as Duchenne muscular dystrophy, Becker muscular dystrophy, and X linked dilated cardiomyopathy, can have cardiac sequelae. In this Review, Finsterer and Cripe discuss how the...

Regenerating muscle in Duchenne muscular dystrophy: age matters

Muscle Regeneration by HDACis in mouse model of Duchenne Muscular Dystrophy at early stages of Disease

Scientists uncover image of muscular dystrophy defect and design targeted drug candidates

Scientists from the Florida campus of The Scripps Research Institute have revealed an atomic-level view of a genetic defect that causes a form of muscular dystrophy, myotonic dystrophy type 2, and hav...

Scientists uncover image of muscular dystrophy defect & design targeted drug candidates

Scientists from the Florida campus of The Scripps Research Institute have revealed an atomic-level view of a genetic defect that causes a form of muscular dystrophy, myotonic dystrophy type 2, and hav...

Nanoparticles treat muscular dystrophy in mouse model

Researchers at Washington University School of Medicine in St. Louis have demonstrated a new approach to treating muscular dystrophy. Mice with a form of this muscle-weakening disease showed improved...

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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...

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...

The difference between healthy life expectancy and life expectancy at birth in men is smaller than that in women in populations with high life expectancy.

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