Diagnosis and Genetics

This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am
“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.

Neurologist Katherine Mathews discusses cardiac, respiratory and other concerns for people with limb-girdle muscular dystrophy

posted on October 3, 2013 - 9:08am
Quest Vol. 20, No. 4
Neurologist Katherine Mathews Katherine Mathews, M.D., is a neurologist at the University of Iowa Hospitals & Clinics in Iowa City, where she co-directs the MDA clinic. She serves on MDA's Medical Advisory Committee. Below she discusses limb-girdle muscular dystrophy with MDA Medical and Science Editor Margaret Wahl.

A nurse and genetic counselor, Trout discusses the diagnostic process and how she helps families with education and support

posted on October 3, 2013 - 9:07am
Quest Vol. 20, No. 4
Nurse Christina Trout Christina Trout is an advanced practice nurse specializing in pediatric neuromuscular disorders and genetic nursing. She's been providing genetic counseling, as well as general education and care coordination, to families with neuromuscular disorders at the University of Iowa since 1993.

Geneticist R. Rodney Howell, chairman of MDA's Board of Directors, testified before a U.S. Senate subcommittee Sept. 26 to support continued funding for newborn screening

posted on September 26, 2013 - 11:16am
R. Rodney Howell, a pediatrician and medical geneticist who chairs MDA's Board of Directors, advocated for passage of the Newborn Screening Saves Lives Reauthorization Act of 2013 (S. 1417) before a U.S. Senate subcommittee on Thursday, Sept. 26. Howell emphasized that

As the search continues for SMA treatments and a cure, MDA is working to help those living with the disease today

posted on August 29, 2013 - 10:37am
MDA is working to improve life span and quality of life for people with spinal muscular atrophy (SMA). Those efforts include the creation of the MDA clinical neuromuscular disease registry, promotion of newborn screening for SMA and publication of a family friendly version of SMA standard of care guidelines. MDA clinical neuromuscular disease registry

Investigators are seeking people with Becker muscular dystrophy to participate in a patient registry and potentially in a gene transfer trial

posted on July 1, 2013 - 5:00am
Update (Nov. 19, 2013):Enrollment for the follistatin gene transfer trial for patients with Becker MD is complete. Enrollment for patients with sporadic inclusion-body myositis, however, is not complete. Investigators remain interested in recruiting participants with either BMD or sIBM for the outcome measures study, also known as the patient registry.

Many MDA grants for research in myasthenia gravis aim to prevent the immune system from attacking needed muscle proteins while allowing it to fight infection

posted on June 25, 2013 - 11:00am
It can start with nothing more than a drooping eyelid or a slight slurring of speech, either of which can come and go and improve with rest. But it can progress, often gradually over weeks or months, to affect all the voluntary muscles, including those controlling breathing. Weakness may be minimal early in the morning after a good night's sleep and worsen throughout the day, especially after...

The biopharmaceutical company will provide first-step Pompe testing (measuring GAA levels in blood) if an MDA clinic physician suspects the disorder

posted on June 10, 2013 - 9:35am
Pompe disease (acid maltase deficiency, or GAA deficiency) shares symptoms with several other disorders and, in the absence of specific testing, can sometimes be confused with these other conditions.