What is the underlying cause of Duchenne muscular dystrophy?

What is the underlying cause of Duchenne muscular dystrophy?

What is the underlying cause of Duchenne muscular dystrophy?

It is caused by a genetic mutation on one of the mother’s X chromosomes, and researchers have identified some of the affected genes. Duchenne muscular dystrophy is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes.

Who discovered Duchenne muscular dystrophy?

DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD.

What is the cause of muscular dystrophy?

Certain genes are involved in making proteins that protect muscle fibers. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.

Can DMD be cured?

There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life. Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.

Does Duchenne affect the brain?

Behavioural studies have shown that DMD boys have a cognitive impairment and a lower IQ (average 85), whilst the mdx mice display an impairment in passive avoidance reflex and in short-term memory.

Who was the first person with muscular dystrophy?

The first historical account of MD was reported by Conte and Gioja in 1836. They described two brothers with progressive weakness starting at age 10 years. These boys later developed generalized weakness and hypertrophy of multiple muscle groups, which are now known to be characteristic of the milder Becker MD.

Who is most at risk for muscular dystrophy?

It affects approximately six out of 100,000 children in North America and Europe. Becker muscular dystrophy (BMD): BMD is the second most common muscular dystrophy. Symptoms of BMD can appear anytime between age 5 and 60, but typically come on during the teen years. Males are more likely to get BMD.

Quali sono i tipi di distrofia muscolare più comuni?

I tipi di distrofia muscolare più noti e comuni sono: La Distrofia Muscolare di Duchenne; La Distrofia Miotonica; La Distrofia Muscolare Facio-Scapolo-Omerale;

Quali sono le distrofie muscolari?

Le distrofie muscolari a carattere ereditario possono appartenere al gruppo delle malattie autosomiche recessive, delle malattie autosomiche dominanti o delle malattie legate al cromosoma sessuale X. Tra tutte le distrofie muscolari, la più comune e nota è la distrofia muscolare di Duchenne.

Cosa può causare la distrofia muscolare dei cingoli?

La distrofia muscolare dei cingoli può colpire i muscoli del cingolo pelvico (distrofia di Leiden) o i muscoli del cingolo scapolare (distrofia di Erb). E’ causata da un un gene autosomico, ovvero presente su un autosoma che è un cromosoma presente in duplice copia.

Chi soffrono di distrofia muscolare di Duchenne?

In Italia, circa 20.000 persone soffrono di distrofia muscolare di Duchenne. Cause. A causare una distrofia muscolare è una mutazione in uno o più geni di fondamentale importanza per il corretto sviluppo e il giusto funzionamento dell’apparato muscolare.