Spinal Muscular Atrophy (SMA)

SMA Therapeutics: Changing the Code

 A process called trans-splicing has been shown to increase levels of a needed protein in mice with a disease resembling severe human spinal muscular atrophy (SMA), says a research team at the University of Missouri-Columbia, whose findings were published Jan. 6, 2010, in the Journal of Neuroscience.

SMA Research: Strengthening the Junctions

MDA-supported researchers at the University of Ottawa and Ottawa Hospital Research Institute (OHRI) have identified a biological pathway that may prove useful in developing treatments for spinal muscular atrophy (SMA)

Gene Links Rare CMT, SMA Forms

Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).

Breaking New Ground

On one of her first days at the University of Missouri, freshman Gabriella Garbero achieved campus-wide notoriety when her father Matt passed out in her dormitory.

He wasn’t impaired -- other than being dehydrated and not having eaten for most of the day, and having diabetes, which he found out about from that experience. The stress of helping his daughter get settled into college life probably also played a part.

SMA Research: Bolstering Backup SMN

Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA).

PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.

SMA Research: A Helpful Mutation

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

SMA Research: Gene Mutation Improves Disease Course

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

SMA: Masking Unwanted Instructions

Scientists at three U.S. institutions have used a very small synthetic molecule to correct the genetic defect in cells taken from a person with spinal muscular atrophy (SMA), a disease in which muscle-controlling nerve cells in the spinal cord are lost.

Kids’ Respiratory Needs

The proceedings of a symposium titled "Pulmonary Management of Pediatric Patients with Neuromuscular Disorders" have been published as a supplement to the May 2009 issue of the journal Pediatrics.

The symposium was held Feb. 20, 2008, at Scottish Rite Hospital in Dallas, and was sponsored by MDA, as well as Respironics and Hill-Rom Services.

Topics, all of which pertain specifically to children with neuromuscular disorders, include

MDA's Voice for Change

Palliative care for kids, transition services for young adults, and genetic discrimination are just some of the projects being worked on by MDA’s Advocacy program, under the energetic direction of MDA Vice President Annie Kennedy.

Following are some highlights of these projects.

Palliative care in pediatrics

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