Muscular Dystrophy

Gene fuels age-related obesity and diabetes

Practically everyone gets fatter as they get older, but some people can blame their genes for the extra padding. Researchers have shown that two different mutations in a gene called ankyrin-B cause cells to suck up glucose ...

Jul 13, 2015
popularity183 comments 1

Gene therapy restores hearing in deaf mice

Using gene therapy, researchers at Boston Children's Hospital and Harvard Medical School have restored hearing in mice with a genetic form of deafness. Their work, published online July 8 by the journal Science Translational ...

Jul 08, 2015
popularity236 comments 1

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 licensed under CC BY-SA

Latest Spotlight News

Older people getting smarter, but not fitter

Older populations are scoring better on cognitive tests than people of the same age did in the past —a trend that could be linked to higher education rates and increased use of technology in our daily lives, say IIASA population ...

We've all got a blind spot, but it can be shrunk

You've probably never noticed, but the human eye includes an unavoidable blind spot. That's because the optic nerve that sends visual signals to the brain must pass through the retina, which creates a hole in that light-sensitive ...

Epigenomic changes are key to innate immunological memory

A research team led by Keisuke Yoshida and Shunsuke Ishii of the RIKEN Molecular Genetics Laboratory has revealed that epigenomic changes induced by pathogen infections, mediated by a transcription factor called ATF7, are ...

Deciphering the olfactory receptor code

In animals, numerous behaviors are governed by the olfactory perception of their surrounding world. Whether originating in the nose of a mammal or the antennas of an insect, perception results from the combined activation ...

How neurons get their branching shapes

For more than a hundred years, people have known that dendritic arbors—the projections that neurons use to receive information from other neurons—differ in size and shape depending on neuron type. Now, researchers at ...