inheritance

Titin Mutations Can Cause CNM

Researchers in the United States and France, supported in part by MDA, have established that mutations in the titin gene are a cause of centronuclear myopathy (CNM), a group of muscle disorders characterized by variable degrees of weakness and cell nuclei that are abnormally located toward the center of muscle fibers rather than around the perimeter.

Exome Sequencing Links New Genes to Sporadic ALS

A team of researchers in the U.S. and Australia has shed new light on sporadic amyotrophic lateral sclerosis (ALS), finding that some people with the disorder have gene mutations that may be associated with ALS and that do not exist in either of their parents — so-called de novo mutations.

ALS Risk Lower in American Indians, Alaska Natives

The number of new cases of amyotrophic lateral sclerosis (ALS) identified each year (incidence) and the number of people living with the disease (prevalence) appears to be lower in American Indians and Alaska Natives than in white populations.

Further studies are needed to determine the reason for these differences, but researchers suggest that nonwhite populations may have different genetic or environmental risks for ALS.

New Guidelines on Genetic Testing in Children

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 children.

Decision Making About PGD Is Complex, Study Finds

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.

Podcast Explores Newborn Screening for DMD

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."

MDA Genetic Counseling Webinar Answers Key Questions

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.

MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

SMA Gene Associated with Sporadic ALS

Duplications (extra copies) of the SMN1 gene are a "major" risk factor for developing sporadic (noninherited) ALS (amyotrophic lateral sclerosis), a team of scientists based in the Netherlands and United Kingdom has reported.

DUX4 Causes Muscle Mayhem in FSHD

Editor's note 2/2/12:This story was updated to reflect the availability of a podcast in which Stephen Tapscott is interviewed.

A little over a year ago, a team of researchers announced a crucial new finding that helped explain the molecular basis of facioscapulohumeral muscular dystrophy (FSHD).

CMT Genetics Study Seeks Participants

Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.

MDA in Your Community


Grants