Limb-Girdle Muscular Dystrophy (LGMD)

Five Questions with Researcher Criss Hartzell

LGMD - Shinichi Takayama, Ph.D.

Shinichi Takayama, a research associate professor at Boston University School of Medicine, was awarded an MDA grant totaling $300,000 over three years to identify potential therapeutic targets in limb-girdle muscular dystrophy (LGMD). Takayama will study the scaffolding protein BAG3 and its interactions with proteins implicated in myofibrillar myopathies and LGMD.

LGMD - Criss Hartzell, Ph.D.

Criss Hartzell, professor of cell biology at Emory University School of Medicine in Atlanta, Ga., was awarded an MDA research grant to elucidate the mechanisms underlying type 2L limb-girdle muscular dystrophy (LGMD), caused by mutations in the ANO5 gene. Hartzell will examine the role the ANO5 protein plays in trafficking and fusion of cell membranes during muscle repair, and how mutations in this protein disrupt these functions.

MDA to Offer Genetic Testing for Limb-Girdle Muscular Dystrophy

Drug Development for DMD: Fall 2014 Update-Part 2

Several experimental drugs are i development to treat Duchenne muscular dystrophy (DMD), a genetic disorder that results in a lack of the dystrophin protein in cardiac and skeletal muscle cells.

CMS/LGMD/PP - Jocelyn Laporte, Ph.D.

Jocelyn Laporte, a team leader at the Institute of Genetics and Molecular and Cellular Biology in Strasbourg, France, was awarded an MDA research grant totaling $253,800 over three years  to develop drugs to treat certain types of congenital myasthenic syndromes (CMS), limb-girdle muscular dystrophy (LGMD) and periodic paralysis (PP) .

CMD/LGMD - Maria Chiara Manzini, Ph.D.

Maria Chiara Manzini, an assistant professor of pharmacology, physiology and integrative systems biology at George Washington University in Washington, D.C., was awarded an MDA research grant totaling $253,800 over three years to identify specific genetic mutations underlying congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) in patients who do not have a genetic diagnosis and to study the effects of these mutatio

AAN Releases Guideline for LGMD Diagnosis and Care

Recommendations for diagnostic procedures or care were rated by the AAN panel according to the strength of the recommendation. The AAN uses the following rating scale:

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

CMD, LGMD: Trial of Breathing Treatment Now Open

Children and adolescents with Ullrich congenital muscular dystrophy or Bethlem myopathy are invited to participate in a study of a daily breathing treatment regimen using a brand-name device called a CoughAssist.