A committee convened by the American Academy of Neurology has published new recommendations for doctors who see children with congenital muscular dystrophy

posted on March 30, 2015 - 10:57am
This spring, the American Academy of Neurology (AAN) released a guideline for the diagnosis and care of children with congenital muscular dystrophy (CMD), a group of early-onset, genetic disorders that can involve skeletal (including respiratory) muscle weakness, heart problems, brain and eye abnormalities, and contractures (frozen joints). An early-onset disease with many genetic causes
posted on October 3, 2013 - 9:04am
Quest Vol. 20, No. 4
Nathan enjoys going to the beach, an activity that's been made easier by an all-terrain vehicle chair. When Nathan Jenkins of Greenville, S.C., was born in November 2003, he was “monstrously tall,” says his mother, Lisa.

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

The right equipment makes it easier

posted on July 1, 2012 - 3:00pm
QUEST Vol. 19, No. 3
The first hint that I was exhibiting symptoms of a muscular disorder came to me in 1997, when I began having problems rising from a church pew. I realized that I could no longer rise simply by grasping the back of the pew in front of me and pulling myself up. I decided my muscle weakness was simply a result of insufficient activity and advancing age, and that the problem could be overcome by...
posted on October 1, 2011 - 9:11am
QUEST Vol. 18, No. 4
Letters to Quest: Getting a long-awaited diagnosis * LBMD2I website * Frivolous ADA lawsuit * Drop 'disease' in Charcot-Marie-Tooth name

New guidelines for physicians seek to improve and standardize diagnosis, treatment and medical management of individuals with congenital muscular dystrophy

posted on January 5, 2011 - 3:17pm
Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines. A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their...

An online survey aims to reduce the time it takes parents to get an accurate diagnosis for their children.

posted on January 21, 2010 - 2:57pm
There’s often quite a gap between the time when parents first have worries about their infant or child and when they finally learn the child has a neuromuscular disease. The National Task Force for the Early Identification of Childhood Neuromuscular Disorders is conducting a survey to learn more about parents' first concerns about their children and how they described those concerns to their...