Spinal Muscular Atrophy News and Research

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

New potential approach to treat spinal muscular atrophy

In the neuromuscular disease called spinal muscular atrophy, or SMA, a protein deficiency caused by a single gene mutation leads to serious damage in growing nerve cells and the muscles they control.

7 Apr 2008

Potential method for repairing misspelling in DNA code that causes spinal muscular atrophy

Researchers at the University of Delaware have discovered a novel technique - that acts like a "spell-checker" for correcting a misspelling in the DNA code - to repair the defective gene that causes spinal muscular atrophy (SMA).

12 Feb 2008

Children with neuromuscular diseases at risk for decreased bone density

Children with neuromuscular diseases such as muscular dystrophy, may be at risk for suboptimal bone density due to low levels of vitamin D.

18 Oct 2007

Spinal Muscular Atrophy Foundation and BG Medicine collaborate

The Spinal Muscular Atrophy Foundation and BG Medicine have announced a collaboration to discover plasma biomarkers of drug efficacy for spinal muscular atrophy (SMA), the leading genetic cause of mortality in infants and toddlers.

18 Sep 2007

New biotech company develops UD-patented technologies for repairing genes

OrphageniX Inc., a new biotechnology company founded by University of Delaware researchers, has been established in Wilmington to develop and commercialize UD-patented technologies for repairing genes that cause rare, hereditary diseases such as sickle cell anemia and spinal muscular atrophy.

25 Apr 2007

European network launched to aid muscle disease patients

Some of the world's leading doctors and scientists will join together in a multi-million pound international network aimed at improving treatment and finding cures for thousands of patients with debilitating neuromuscular diseases.

2 Dec 2006

Whoever said people were much the same was wrong!

An international research team have come up with a new genetic map which could demand a fundamental shift in how we think genes work.

22 Nov 2006

New approaches to genetic disease, based on cells' own ability to correct themselves

New approaches to genetic disease, based on cells' own ability to correct themselves, will be outlined today at the annual conference of the European Society of Human Genetics in Amsterdam, The Netherlands.

8 May 2006

Parents win high court battle to keep their baby alive

The parents of an 18-month-old boy with a terminal muscle-wasting disease, won a High Court legal battle to stop doctors turning off the ventilator keeping him alive.

16 Mar 2006

Neurological and neuromuscular diseases raise risk of complications from flu

As another flu season approaches, patients with neurological and neuromuscular disease are especially vulnerable to respiratory failure caused by influenza.

3 Nov 2005

Overall genome landscape between chimps and humans can be attributed to large segmental duplications

A study comparing the genomes of both humans and chimpanzees has found that much of the genetic difference between the two species came about in events called segmental duplications, in which segments of genetic code are copied many times in the genome.

4 Sep 2005

Exposing SMA-affected cells to aminoglycoside drugs can increase SMN

MDA grantee Christian Lorson at the University of Missouri was on a team that found that exposing cells carrying a mutation that causes spinal muscular atrophy (SMA) to drugs in the aminoglycoside family helps them produce more of the needed SMN protein, a lack of which leads to SMA.

9 Jun 2005

Indoprofen may lead to new treatments for spinal muscular atrophy

A drug withdrawn from pharmacy shelves over 20 years ago may point the way to a new treatment for spinal muscular atrophy, or SMA, a muscle-wasting and often life-threatening childhood disease.

29 Nov 2004