diagnosis

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“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.

Survey for People with IBM Reports Early Findings

Investigators conducting an online survey launched in January 2013 to gather anonymous information from people with inclusion-body myositis (IBM) are now reporting preliminary results and are asking the original respondents to complete a short supplementary survey.

BMD: Participants Sought for Registry Associated with Gene Transfer Trial

In connection with a gene transfer clinical trial, investigators at Nationwide Children's Hospital in Columbus, Ohio, are seeking people with Becker muscular dystrophy (BMD) for participation in a patient registry.

The investigators say the registry will provide information that will:

MG: Can the Immune Response Be Tamed?

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 periods of activity.

Genzyme and MDA Provide Pompe Families with Free Testing

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.

Newborn Screening Recommended for Pompe Disease

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.

Pompe Disease, DMD: Newborn Screening Proposed

Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease— were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.

Registry Seeks Participants with Congenital Muscle Disorders

An international patientregistry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

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.

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