Metabolic Diseases of Muscle

Edison drugs target FA, mitochondrial diseases

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

 Monique Griffin of Orlando, Fla., was one of the first in the nation to receive the commercially available treatment Lumizyme for acid maltase deficiency (AMD, or Pompe disease).

 MDA National Vice President Jeni Stepanek will be a guest on the November 2 broadcast of ABC's "Good Morning America" to promote the release of Messenger: The Legacy of Mattie J. T. Stepanek and Heartsongs, an inside look at the life of her famous son, who served as MDA’s National Goodwill Ambassador from 2002-2004.

At least 15 Muscular Dystrophy Association research grantees, past and present, have won funding from the National Institutes of Health through the American Recovery and Revitalization Act (ARRA) to accelerate the search for treatments and cures for neuromuscular diseases.

Scentists at Oregon Health and Science University in Portland have developed an assisted-reproduction technique that has the potential to allow mothers with mitochondrial myopathies and other mitochondrial diseases to virtually eliminate the risk of passing on the disease to their children.