Quest News (online only)

Selumetinib Helps Heart in EDMD Mice

The drug improved heart function and survival in mice with lamin A/C mutations, which cause lamin A/C-related Emery-Dreifuss MD and type 1B limb-girdle MD

posted on May 18, 2012 - 2:00pm

An MDA-supported study has shown that an experimental drug called selumetinib, given to mice with heart disease mimicking that found in one form of Emery-Dreifuss muscular dystrophy (EDMD) and one form of limb-girdle muscular dystrophy (LGMD), increased cardiac contractility, prevented scar tissue formation in the heart, and prolonged sur

MDA Launches New Research Symposium Series

MDA will sponsor four symposia addressing specific roadblocks and moving forward with therapy development for neuromuscular disease

posted on May 17, 2012 - 6:15pm

This month, MDA is launching a new U.S.-based symposium series to address important topics and ultimately to accelerate therapy development for neuromuscular diseases. "MDA’s new symposium series is designed to address cutting-edge issues in neuromuscular disease research," said Sanjay Bidichandani, MDA's vice president of research. "Science is advancing at a rapid pace, and these small and...

SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Mutations in the DYNC1H1 gene cause a rare form of spinal muscular atrophy; plastin 3 contributes to movement problems in SMN-related SMA

posted on May 15, 2012 - 12:29pm

Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles.

Decision Making About PGD Is Complex, Study Finds

A study of 22 couples considering preimplantation genetic diagnosis (PGD) has revealed a four-phase decision-making process

posted on May 11, 2012 - 3:59pm

Decision making about preimplantation genetic diagnosis (PGD) is a complex, multiphase process for couples, a new study has found. Understanding it, the investigators say, may be helpful to prospective parents who know they're at risk for transmitting a genetic disorder, and to the professionals who advise them.

2012 AAN Meeting: Limb-Girdle MD, Distal MD Briefs

Findings about ANO5 mutations, DNAJB6 mutations and dysferlin gene transfer were presented

posted on May 9, 2012 - 12:15pm

The 2012 annual meeting of the American Academy of Neurology (AAN), held in New Orleans April 21-28, included findings related to limb-girdle muscular dystrophy (LGMD) and distal muscular dystrophy.

'Turning Off the Switch' May Provide New FSHD Strategy

Researchers have identified a molecular switch that appears to lead to harmful gene activation in facioscapulohumeral MD

posted on May 7, 2012 - 1:00am

Researchers in Italy and Japan, supported in part by MDA, have identified what they believe is a molecular "switch" that may be inappropriately activating several genes in facioscapulohumeral muscular dystrophy (FSHD).

Research Briefs: New Tools for CMT

Recent developments in Charcot-Marie-Tooth disease include CMT2E research mice, CMT1A stem cells, progress toward CMT1A gene therapy and a new pediatric disability scale

posted on May 4, 2012 - 9:50am

Charcot-Marie-Tooth disease (CMT) is a peripheral nerve disorder that can be caused by mutations in more than 50 different genes. Recent research has resulted in several new tools that will help advance the work of researchers in this field.

Housing		Independence
Personal Stories		Psychological Factors
Service Animals		Safety
Legislation and Policy		Taxes

College And Beyond		Learning Disabilities
IEP and 504 Plans		MDA Summer Camps
Transition Programs

Diagnosis and Genetics		Drugs
Insurance and Costs		MDA Clinics
Medical Procedures		Exercise and Sports
Nutrition

Adolescents and Young Adults		Children with an MD
Parents with an MD		Siblings

Research Administration		Endocrine Myopathies
Metabolic Diseases of the Muscle		Motor Neuron
Muscular Dystrophies		Neuromuscular Junction
Other Myopathies		Research Updates
General Research		Diseases of the Peripheral Nerve
Inflammatory Myopathies		Clinical Trials and Studies