Muscular Dystrophy

Researchers isolate human muscle stem cells

UC San Francisco researchers have successfully isolated human muscle stem cells and shown that the cells could robustly replicate and repair damaged muscles when grafted onto an injured site. The laboratory finding paves ...

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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
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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
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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

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