The AAP and the ACMG have issued recommendations on updated technologies and new uses of genetic testing and screening
As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in...
A database of clinical information can be a powerful tool for improving both quality of life and research
Update (Feb. 5, 2013): Authors from the University of Rochester Medical Center, the Muscular Dystrophy Association (MDA), the Cystic Fibrosis (CF) Foundation and the American Academy of Neurology reviewed current approaches for obtaining patient data in Duchenne muscular dystrophy (DMD), and considered how monitoring and comparing outcomes measured across DMD clinics could lead to improved...
Parents of children born in the United States (with or without muscle disease) are encouraged to take a survey about their experiences with newborn screening
MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.
A study of 22 couples considering preimplantation genetic diagnosis (PGD) has revealed a four-phase decision-making process
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.
Longtime MDA research grantee Jerry Mendell discusses his group's development of a feasible strategy for screening newborn babies for Duchenne MD
An April 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, explores the implications of a recently developed strategy for newborn screening for Duchenne muscular dystrophy (DMD).
The podcast is part of a Nationwide Children's series called "This Month in Muscular Dystrophy."
A challenging and multifaceted disease
As far back as Carla Licon can remember, her mother had difficulty opening jars and walking long distances. Licon’s mother wore ankle braces, and she also had an unusual symptom known as "myotonia," the inability to relax muscles, such as a clenched hand, at will.
Licon, who is 31 and lives in Victoria, Texas, thinks these symptoms started when her mother was in her 20s. Later, her mother’s...
In this first of several reports on MDA's Clinical Conference, the role of genetics and immunology in different neuromuscular diseases is described
More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.
The program emphasized: