Search Results for "Ullrich Muscular Dystrophy Life Expectancy"

08:09 EST 27th November 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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Muscular Dystrophy Partnering

The Muscular Dystrophy Partnering report provides understanding and access to the muscular dystrophy partnering deals and agreements entered into by the worlds leading healthcare companies. Trends in ...

Cardiac stem cell therapy may heal heart damage caused by Duchenne muscular dystrophy

(Cedars-Sinai Medical Center) Researchers at the Cedars-Sinai Heart Institute have found that injections of cardiac stem cells might help reverse heart damage caused by Duchenne muscular dystrophy, po...

Idera, Parent Project Muscular Dystrophy partner to advance new treatment approach for duchenne muscular dystrophy

Idera Pharmaceuticals and Parent Project Muscular Dystrophy have announced a collaboration to advance Idera's proprietary Toll-like receptor (TLR) technology for the treatment of Duchenne muscular dys...

Brian Malmgren Memorial Fund Established

(PRWEB) August 04, 2014 On the afternoon of July 30th, 2014, Brian Malmgren passed away due to complications associated with Myotonic Dystrophy. At age 43, Brian had lived a full, and at times, ver...

Idera Pharmaceuticals, Parent Project Muscular Dystrophy collaborate

Idera Pharmaceuticals, a Cambridge, Mass.-based clinical-stage biopharmaceutical company, and nonprofit organization Parent Project Muscular Dystrophy (PPMD), based in Hackensack, N.J., are collabora...

Missing protein restored in patients with muscular dystrophy

Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy. Researc...

Are my muscular dystrophy drugs working?

People with muscular dystrophy could one day assess the effectiveness of their medication with the help of a smartphone-linked device, a new study in mice suggests. The study used a new method to proc...

Idera Pharmaceuticals and Parent Project Muscular Dystrophy Announce Collaboration to Advance New Treatment Approach for Duchenne Muscular Dystrophy

Toll-like receptor antagonism designed to treat muscle inflammation central to disease progression New approach offers potential to treat broad population of patients regardless of their gen...

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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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