Diagnosis and Genetics

MDA's 2014 Clinical Conference on neuromuscular disease brings together health professionals from across the country and focuses on improving lives through excellence in care

Posted on Monday, March 10, 2014 - 12:27, By: Margaret Wahl
"Optimizing Care: Improving Lives Through Clinical Excellence" is the theme of the 2014 MDA Clinical Conference, which takes place March 16-19 at the Hyatt Regency in Chicago. A secondary theme — "I am progress" — also will be in evidence, referencing the crucial role that MDA clinic team members...

Twenty-five new genetic mutations were found in people with sporadic ALS but not in their parents, supporting the role of genetic contribution in the noninherited form of the disease

Posted on Friday, May 31, 2013 - 12:00, By: Amy Madsen
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.

What do they mean, and why do they matter?

Posted on Sunday, January 1, 2012 - 12:00, By: Amy Madsen
One of the first things that comes with a diagnosis of ALS is the determination of which “form” a person has: familial or sporadic. Sometimes it appears obvious. If there’s a known history of the disease “running in the family,” then the person is said to have familial, or inherited, ALS. If the...

The combined effects of astrocytes and SOD1 protein appear to be toxic to motor neurons in models of both inherited and sporadic ALS

Posted on Monday, August 29, 2011 - 17:11, By: Amy Madsen
Astrocytes — cells that normally support and protect nerve cells — have been found to cause motor neuron degeneration in newly created human cellular models of both inherited and noninherited ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). Scientists tied the astrocytes' effects, in...

Abnormalities in the ubiquilin 2 gene can cause ALS, and accumulations of ubiquilin 2 protein — even without gene mutations — also are associated with the disease

Posted on Monday, August 22, 2011 - 18:18, By: Margaret Wahl
 A group of researchers led by Teepu Siddique at Northwestern University Feinberg School of Medicine in Chicago has identified abnormalities in the ubiquilin 2 gene and protein as important contributors to several forms of amyotrophic lateral sclerosis (ALS).
Posted on Monday, November 1, 2010 - 15:15, By: Other
Posted on Thursday, July 1, 2010 - 14:38, By: Miriam Davidson
Erin Worsham and her husband tried to have a baby for six years, with no luck. They had accepted they would never be parents. Then, in a twist of fate worthy of a novel, Worsham got pregnant the day after she was diagnosed with ALS. When Worsham learned of her pregnancy, she was delighted. Her...