Muscular Dystrophy

Animals in research: Zebrafish

Zebrafish are probably not the first creatures that come to mind when it comes to animals that are valuable for medical research.

Medical research created May 10, 2013 | popularity 5 / 5 (1) | comments 0

Scientists find clues to some inherited heart diseases

(Medical Xpress)—Cornell researchers have uncovered the basic cell biology that helps explain heart defects found in diseases known as laminopathies, a group of some 15 genetic disorders that include forms ...

Medical research created May 07, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Telomere shortening affects muscular dystrophy gene

(Medical Xpress)—Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their ...

Genetics created May 06, 2013 | popularity 4.8 / 5 (4) | comments 3 | with audio podcast report

Identification of stem cells raises possibility of new therapies

Many diseases – obesity, Type 2 diabetes, muscular dystrophy – are associated with fat accumulation in muscle. In essence, fat replacement causes the muscles to weaken and degenerate.

Medical research created Apr 30, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Firefly protein lights up degenerating muscles, aiding muscular-dystrophy research

Stanford University School of Medicine scientists have created a mouse model of muscular dystrophy in which degenerating muscle tissue gives off visible light. The observed luminescence occurs only in damaged muscle tissue ...

Medical research created Apr 24, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Examining function of all genes in the zebrafish genome to benefit human health

Equipped with the zebrafish genome, researchers have designed a method to assay the function of each and every gene and to explore the effects genetic variation has on zebrafish. So far the team has generated one or more ...

Genetics created Apr 17, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Completion of the zebrafish reference genome yields strong comparisons with the human genome

Researchers demonstrate today that 70 per cent of protein-coding human genes are related to genes found in the zebrafish and that 84 per cent of genes known to be associated with human disease have a zebrafish counterpart. ...

Genetics created Apr 17, 2013 | popularity not rated yet | comments 0 | with audio podcast

Promoting muscle regeneration in a mouse model of muscular dystrophy

Duchenne muscular dystrophy (DMD) is a degenerative skeletal muscle disease caused by mutations in the protein dystrophin. Dystrophin functions to protect muscle cells from injury and loss of functional dystrophin results ...

Medical research created Apr 01, 2013 | popularity not rated yet | comments 0

Novel intercellular transportation system may have potential for delivering RNAi and other gene-based therapeutics

(Medical Xpress)—Important new research from UMass Medical School demonstrates how exosomes shuttle proteins from neurons to muscle cells where they take part in critical signaling mechanisms, an exciting ...

Neuroscience created Mar 27, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast

UK: Public OK with creating babies from three people

Britain's fertility regulator says it has found broad public support for in vitro fertilization techniques that allow babies to be created with DNA from three people for couples at risk of passing on potentially fatal genetic ...

Obstetrics & gynaecology created Mar 20, 2013 | popularity 5 / 5 (1) | comments 1

Mutated gene causes nerve cell death

Researchers identify new mechanism in the onset of incurable nerve disease The British astrophysicist Stephen Hawking is likely to be the world's most famous person living with amyotrophic lateral sclerosis ...

Medical research created Mar 13, 2013 | popularity 5 / 5 (3) | comments 0

Cell metabolism: Muscle loss can be caused by mitochondrial degradation induced by protein Mul1

Muscle withering can occur as part of the progression of many diseases, including cancer and muscular dystrophy, as well as during the normal aging process. Cellular organelles known as mitochondria provide ...

Medical research created Mar 13, 2013 | popularity 5 / 5 (1) | comments 0

Why a hereditary anemia is caused by genetic mutation in mechanically sensitive ion channel

A genetic mutation that alters the kinetics of an ion channel in red blood cells has been identified as the cause behind a hereditary anemia, according to a paper published this month in the Proceedings of the National Ac ...

Medical research created Mar 08, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Researchers utilize genetically corrected stem cells to spark muscle regeneration

Researchers at the University of Minnesota's Lillehei Heart Institute have combined genetic repair with cellular reprogramming to generate stem cells capable of muscle regeneration in a mouse model for Duchenne Muscular Dystrophy ...

Medical research created Mar 05, 2013 | popularity 5 / 5 (4) | comments 0 | with audio podcast

Cell discovery could hold key to causes of inherited diseases

Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders.

Medical research created Feb 26, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast


Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy.

It soon became evident that the disease had more than one form. The other major forms are Becker, limb-girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss muscular dystrophy. These diseases predominately affect males, although females may be carriers of the disease gene. Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal system, nervous system, endocrine glands, eyes and brain.

Apart from the nine major types of muscular dystrophy listed above, several MD-like conditions have also been identified. Normal intellectual, behavioral, bowel and sexual function is noticed in individuals with other forms of MD and MD-like conditions. MD-affected individuals with susceptible intellectual impairment are diagnosed through molecular characteristics but not through problems associated with disability. However, a third of patients who are severely affected with DMD may have cognitive impairment, behavioral, vision and speech problems.

This text uses material from Wikipedia and is available under the GNU Free Documentation License.

Latest Spotlight News

Neurons that can multitask greatly enhance the brain's computational power, study finds

Over the past few decades, neuroscientists have made much progress in mapping the brain by deciphering the functions of individual neurons that perform very specific tasks, such as recognizing the location ...

Team finds mechanism linking key inflammatory marker to cancer

In a new study described in the journal Oncogene, researchers reveal how a key player in cell growth, immunity and the inflammatory response can be transformed into a primary contributor to tumor growth.

Immune protein could stop diabetes in its tracks

Melbourne researchers have identified an immune protein that has the potential to stop or reverse the development of type 1 diabetes in its early stages, before insulin-producing cells have been destroyed.

Measles surges in UK years after flawed research (Update)

More than a decade ago, British parents refused to give measles shots to at least a million children because of now discredited research that linked the vaccine to autism. Now, health officials are scrambling ...

Vitamin D could provide new and effective treatments for asthma

(Medical Xpress)—Scientists at King's College London have discovered that Vitamin D has the potential to significantly reduce the symptoms of asthma. The study, led by Professor Catherine Hawrylowicz from ...

Treatment of sleep apnea improves glucose levels in prediabetes

Optimal treatment of sleep apnea in patients with prediabetes improves blood sugar (glucose) levels and thus can reduce cardiometabolic risk, according to a study to be presented at the ATS 2013 International Conference in ...

Whole-cell vaccine was more effective than acellular vaccine during CA pertussis outbreak

Whole-cell pertussis vaccines were more effective at protecting against pertussis than acellular pertussis vaccines during a large recent outbreak, according to a new Kaiser Permanente study published in Pediatrics.

Research uncovers a potential role of two proteins in diabetes

(Medical Xpress)—Flinders University researchers are breaking new ground in a decade-long journey to pinpoint the function of two closely related proteins.

Blame your parents for bunion woes

A novel study reports that white men and women of European descent inherit common foot disorders, such as bunions (hallux valgus) and lesser toe deformities, including hammer or claw toe. Findings from the Framingham Foot ...

Lymphatic fluid takes detour

When tumours metastasise, they can block lymphatic vessels, as researchers from ETH Zurich have discovered using a new method. The lymphatic fluid subsequently has to find a new path through the tissue. Such ...