Diagnosis and Genetics

A look at symptoms, diagnosis, treatments and current MDA-supported research into this complex autoimmune disorder

posted on June 15, 2015 - 1:01pm
In recognition of June being National Myasthenia Gravis Awareness Month, MDA is examining the disease from several perspectives. This article offers an overview of signs, symptoms, diagnosis and treatments for myasthenia gravis (MG), as well as information on drugs that people with MG should avoid.

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.

Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease

posted on June 7, 2013 - 11:05am
FSHD, MMD: Registry remains open The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.

Federal committee votes to add the enzyme deficiency disorder to the list of recommended conditions for which states screen newborns

posted on May 17, 2013 - 2:45pm
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends states screen for in newborns.

The AAP and the ACMG have issued recommendations on updated technologies and new uses of genetic testing and screening

posted on March 6, 2013 - 2:15pm
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

posted on October 1, 2012 - 9:10am
QUEST Vol. 19, No. 4
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

posted on August 2, 2012 - 2:07pm
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

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.