What is the history of muscular dystrophy?

What is the history of 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.

When was muscular dystrophy first discovered?

The first historical account of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys.

Where did the name Duchenne muscular dystrophy come from?

However, DMD is named after the French neurologist Guillaume-Benjamin-Amand Duchenne (1806–1875), who in the 1861 edition of his book Paraplegie hypertrophique de l’enfance de cause cerebrale, described and detailed the case of a boy who had this condition.

What are three facts about Duchenne muscular dystrophy?

Duchenne muscular dystrophy

•  1 in 3,500. boys born with. Duchenne.
•  300,000. sufferers known in. the developed world.
•  100% FATAL. and there is. currently no cure.
•  MID 20s. average life. expectancy.

Who was the first person to have muscular dystrophy?

Who discovered muscular dystrophy gene?

In 1868, French neurologist Guillaume Benjamin Amand Duchenne became the first scientist to give a comprehensive account of 13 boys affected by severe disease, which would later be referred to as Duchenne muscular dystrophy (DMD).

What causes death in Duchenne?

Conclusions: The main cause of death in DMD in our population remains cardio-respiratory failure. Four patients (19%) died in their teenage years in the absence of severe cardiorespiratory failure.

Who discovered Duchenne and Becker muscular dystrophy?

People with Becker muscular dystrophy produce more dystrophin than those with Duchenne muscular dystrophy. The condition is named for the German physician Peter Emil Becker, who first described this variant of muscular dystrophy in the 1950s.

How was the DMD gene identified?

Until the 1980s, little was known about the cause of any of the forms of muscular dystrophy. In 1986, MDA-supported researchers identified a gene on the X chromosome that, when flawed (mutated), causes Duchenne, Becker, and an intermediate form of muscular dystrophies.

How long do Duchenne boys live?

Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; people with the condition will usually only live into their 20s or 30s.

What age does Duchenne muscular dystrophy affect?

It is the most common muscular dystrophy, a kind of inherited muscle disease. DMD causes weakness and muscle loss that spreads throughout your child’s body. DMD appears in young boys, usually between ages 2 and 5. It causes muscle loss that gets worse over time.

Why is Duchenne muscular dystrophy more common in males?

DMD generally affects boys because the dystrophin gene is on the X chromosome. Chromosomes are the parts of your cells that contain your genes. Boys only have one X chromosome. Girls have two X chromosomes, one from each parent.

Where is Duchenne muscular dystrophy most common in the world?

The global birth prevalence of DMD range was very wide: from 1.5 to 28.2 cases per 100,000 live male births in Germany and Italy, respectively [25, 51, 68].

Is DMD an orphan disease?

The defective gene that causes Duchenne muscular dystrophy can be inherited in families, but it also occurs in people whose families do not have a history of the condition. Because the gene is located on the X chromosome, the disease affects mostly boys. Girls can have it too, although it is extremely rare.

Who is most affected by Duchenne muscular dystrophy?

The most common muscular dystrophy in children is Duchenne muscular dystrophy (DMD), which predominantly affects males. Historically, DMD has resulted in loss of the ability to walk between ages 7 and 13 years, and death in the teens or 20s.