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 ...

Diseases, Conditions, Syndromes

Duchenne muscular dystrophy's impact on the brain may be reversible

New research led by the University of Portsmouth has revealed how Duchenne muscular dystrophy (DMD), best known for causing severe muscle degeneration, also profoundly affects the brain, leading to cognitive and behavioral ...

Parkinson's & Movement disorders

Mouse model reveals liver involvement in muscular dystrophy

A new mouse model mimicking the liver symptoms of myotonic dystrophy type 1—the most prevalent form of adult-onset muscular dystrophy—provides insight into why patients develop fatty liver disease and display hypersensitivity ...

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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.

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