Medical research

An elusive mechanism of wasting syndrome cachexia revealed

Researchers from the Department of Molecular Biology and Genetics at Koc University in Turkey and the Pole of Endocrinology, Diabetology and Nutrition, Institute of Experimental and Clinical Research at Université Catholique ...

Genetics

CRISPR treats genetic disorder in adult mammal

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy ...

Genetics

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

Gene discovered that can protect against severe muscle disease

A specific gene may play a key role in new treatments that prevent muscle in the body from breaking down in serious muscle diseases, or muscular dystrophies. This is shown in a new study carried out at Umeå University, Sweden, ...

Genetics

Developing deep learning models to understand the human genome

Northwestern Medicine scientists have developed a deep learning algorithm capable of identifying the location where a genetic process called polyadenylation occurs on the genome, according to findings published in Nature ...

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Muscular dystrophy

Muscular dystrophy (abbreviated MD) refers to a group of genetic, hereditary muscle diseases that weaken the muscles that move the human body. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs.

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 13 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, and that these diseases affected males of all ages.[citation needed]

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