Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Targeting RNA repeats

RNA repeats are stretches of code in the body that incrementally repeat. For example, in the most common cause of adult-on-set muscular dystrophy a RNA has a repeat of r(CUG) and this three letter code can repeat thousands of times.

20 Feb 2017

New method that detects NMD efficiency could help in treatment of many diseases

In cells, DNA is first converted to RNA, and RNA is next converted to proteins--a complicated process involving several other steps. Nonsense-mediated RNA decay is a processing pathway in cells that, like a broom, cleans up erroneous RNA to prevent its productive conversion into an aberrant protein, which could lead to disease.

17 Feb 2017

Emory researchers reveal 'matchmaker' role for protein linked to SMA

A puzzling question has lurked behind SMA, the leading genetic cause of death in infants. The disorder leads to reduced levels of the SMN protein, which is thought to be involved in processing RNA, something that occurs in every cell in the body.

14 Feb 2017

Research suggests new type of congenital muscular dystrophy

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy.

10 Feb 2017

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

The U.S. Food and Drug Administration today approved Emflaza (deflazacort) tablets and oral suspension to treat patients age 5 years and older with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle deterioration and weakness.

9 Feb 2017

Study discovers new form of congenital muscular dystrophy caused by faulty INPP5K gene

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

9 Feb 2017

New gene therapy for Pompe disease may replace currently available treatments

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients.

27 Jan 2017

Synthetic molecule appears to reverse Alzheimer's-related neurological damage

Under ordinary circumstances, the protein tau contributes to the normal, healthy functioning of brain neurons. In some people, though, it collects into toxic tangles that damage brain cells.

25 Jan 2017

TUM researchers decipher secret behind cohesion of heart muscles

Our hearts beat a life long. With every beat our heart muscle contracts and expands. How this can work throughout an entire life remains largely a mystery. Researchers at the Technical University of Munich have now measured the forces acting between the building blocks titin and α-actinin which stabilize the muscle.

25 Jan 2017

MGH researchers identify gene mutations linked to rare congenital condition involving lack of nose

Researchers from Massachusetts General Hospital led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

11 Jan 2017

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy.

9 Jan 2017

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation.

5 Jan 2017

Researchers find striking differences between countries, age groups in access to proper care for DMD

Duchenne muscular dystrophy (DMD), a progressive muscle disease affecting one in 3800-6300 live male births and leads to ambulatory loss, respiratory problems, cardiomyopathy, and early death of patients in their 20s or 30s.

4 Jan 2017

Study reports volume and cost of in-home care for children with special medical conditions

U.S. families provide nearly $36 billion annually in uncompensated medical care at home to children who have special health care needs, such as muscular dystrophy and cystic fibrosis, according to a large national study.

28 Dec 2016

Study tracks parents' unpaid time assisting children with special health care needs

About half of U.S. children with special health care needs -- 5.6 million children -- receive medical care from uncompensated family members worth billions of dollars, finds a large national study led by Boston Children's Hospital and the University of Southern California (USC).

27 Dec 2016

Ionis announces FDA approval of first SMA drug in the U.S for pediatric and adult patients

Ionis Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration has approved SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients.

26 Dec 2016

MDA celebrates FDA approval of new spinal muscular atrophy drug

The Muscular Dystrophy Association today celebrated news of the U.S. Food and Drug Administration's decision to grant approval for nusinersen (brand name Spinraza), the first disease-modifying drug to treat the most common genetic cause of death in infants.

23 Dec 2016

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