Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Dementia diagnostic panel for treatable forms of cognitive impairment launched by Quest Diagnostics

Quest Diagnostics (NYSE: DGX), the world’s leading provider of diagnostic information services, announced the availability of the first clinical test panel for aiding the diagnosis of suspected dementia due to treatable forms of cognitive impairment. The test panel is believed to be the first commercial service from a clinical laboratory to combine several guideline-recommended tests for identifying secondary, treatable causes of dementia as a single blood test and report.

From Quest Diagnostics 19 Mar 2013

Columbia University Medical Center, NewYork-Presbyterian Hospital present research works at AAN meeting

The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology, March 16-23, 2013, in San Diego.

18 Mar 2013

Researchers identify new mechanism in onset of motor neuron diseases

The British astrophysicist Stephen Hawking is likely to be the world's most famous person living with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a progressive disease affecting motor neurons, nerve cells that control muscle function, and nearly always leads to death.

11 Mar 2013

Genetic mutation that alters PIEZO1 ion channel in RBCs contributes to familial xerocytosis

A genetic mutation that alters the kinetics of an ion channel in red blood cells has been identified as the cause behind a hereditary anemia, according to a paper published this month in the Proceedings of the National Academy of Sciences by University at Buffalo scientists and colleagues.

11 Mar 2013

Cell fusion studies at Johns Hopkins could lead to improved treatments for muscular dystrophy

Researchers at Johns Hopkins have established a high-efficiency cell-cell fusion system, providing a new model to study how fusion works. The scientists showed that fusion between two cells is not equal and mutual as some assumed, but, rather, is initiated and driven by one of the fusion partners. The discovery, they say, could lead to improved treatments for muscular dystrophy, since muscle regeneration relies on cell fusion to make muscle fibers that contain hundreds or even thousands of nuclei.

8 Mar 2013

Study combines induced pluripotent stem cell technology and genetic correction to treat DMD

Researchers at the University of Minnesota's Lillehei Heart Institute have combined genetic repair with cellular reprogramming to generate stem cells capable of muscle regeneration in a mouse model for Duchenne Muscular Dystrophy (DMD).

7 Mar 2013

Pivotal study of olesoxime in Spinal Muscular Atrophy receives positive interim review

Trophos SA, a clinical stage pharmaceutical company developing innovative therapeutics from discovery to clinical validation for under-served medical needs in neurology and cardiology, announced the completion of the interim analysis of the pivotal efficacy study of olesoxime in the rare neurodegenerative condition Spinal Muscular Atrophy (SMA).

1 Mar 2013

New findings could help develop treatments for inherited disorders

Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders.

27 Feb 2013

New approach could make gene therapy dramatically more effective for HIV patients

A research team from Case Western Reserve University School of Medicine has discovered an approach that could make gene therapy dramatically more effective for patients.

16 Feb 2013

Steroid therapy impedes Duchenne’s cardiomyopathy

Steroid therapy is associated with a considerable reduction in all-cause mortality and new-onset and progressive cardiomyopathy in patients with the debilitating X-linked disease Duchenne muscular dystrophy.

11 Feb 2013

Left ventricular assist device improves quality of life in two brothers with Becker's Muscular Dystrophy

Tyler Wertz, 18, and his 16-year old brother Austin Tucker, fight, tease, love and support each other like most brothers do. Unlike most brothers, however, they share the same uncertain future—both have heart assist devices keeping them alive while they struggle with a debilitating disease. As young boys, Tyler and Austin were diagnosed with Becker's Muscular Dystrophy, a disease that slowly weakens the arms and legs and damages the heart.

31 Jan 2013

CUMC receives $7M to help establish Weinberg Family Cerebral Palsy Center

Seeking to bridge the transition from pediatric to adult care for people living with cerebral palsy, Debby and Peter A. Weinberg, with several of their family members and friends, have given more than $7 million to help establish the Weinberg Family Cerebral Palsy Center at Columbia University Medical Center (CUMC).

31 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

New targeted enzyme replacement therapy can treat X-linked myotubular myopathy

A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy from 4s3 Bioscience.

23 Jan 2013

Research on dystrophin gene sequence could lead to treatments for Duchenne muscular dystrophy

Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described this month in the Proceedings of the National Academy of Sciences has identified significant sections of the gene that could provide hope to young patients and families.

23 Jan 2013

UC Davis professor receives supplemental funds from Parent Project Muscular Dystrophy

Parent Project Muscular Dystrophy (PPMD) has awarded Dr. Craig McDonald of the University of California, Davis (UC Davis) $175,000 in supplemental funds to expand his ongoing study through the 20 CINRG (Cooperative International Neuromuscular Research Group) centers to better understand the progression of Duchenne muscular dystrophy (Duchenne) and determine the impact of the Duchenne standards of care established by the Centers for Disease Control (CDC).

19 Jan 2013

Potential stem cell therapy for Duchenne’s

Researchers have found that injecting aorta-derived stem cells into the hearts of dystrophin-deficient mice prevents the onset of dilated cardiomyopathy, raising hopes of a potential new treatment approach to prevent or reverse the condition in human Duchenne muscular dystrophy.

17 Jan 2013

Positive gene therapy results in large mammals of Duchenne muscular dystrophy

Usually, results from a new study help scientists inch their way toward an answer whether they are battling a health problem or are on the verge of a technological breakthrough. Once in a while, those results give them a giant leap forward. In a preliminary study in a canine model of Duchenne muscular dystrophy (DMD), University of Missouri scientists showed exactly such a leap using gene therapy to treat muscular dystrophy.

17 Jan 2013

Tamoxifen can counteract some pathologic features in mouse model of DMD

A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathologic features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death.

16 Jan 2013

Stem cell transplantation prevents decrease in heart function associated with DMD

Researchers have shown that transplanting stem cells derived from normal mouse blood vessels into the hearts of mice that model the pathology associated with Duchenne muscular dystrophy (DMD) prevents the decrease in heart function associated with DMD.