Juvenile Muscular Dystrophy (청소년기 근위축증)

Muscular dystrophy is a group of disease in which muscles become progressively weaker with age. Some versions of this condition progress quickly and are fatal, but benign juvenile muscular dystrophy is much milder. This disease is also known as progressive tardive, or Becker, muscular dystrophy.

 

양쪽다 더 심각한 버전은 Duchenne(뒤쒸엔느 근위축증) 이라 불리고, 청소년기 근위축증은 모계로부터 내려오는 유전적인 이상이다. 결함이 있는 유전자가 열성으로 X 염색체에 사는데, 그래서 이것을 물려받은 소녀들은 주로 캐리어 역할만 하며 ― 어떤 증상을 보이진 않는다. 그러나 소년들은 그들의 엄마의 X 염색체만으로도 증상을 갖게 된다. 이러한 상황은 3만명의 소년들 중에 한명 꼴로 발생한다.

 

Because of this genetic glitch, the body does not produce sufficient amounts of a protein called dystrophin. This protein helps muscle cells keep their shape and length; without it, muscles break down. Boys who have Duchenne muscular dystrophy begin experiencing symptoms at about age 2. They start to develop leg weakness, balance problems, and large calf muscles. By late childhood, they often are unable to walk; many sufferers pass away by their late teens or early twenties from pneumonia, lung weakness, or cardiac complications. Boys with benign muscular dystrophy, on the other hand, don't begin to show the effects of the disease until about age 10 or 11. Their symptoms are less severe and progress more slowly; they usually don't lose the ability to walk until late adulthood and may retain their mobility.

 

불행하게도 근위축증은 치료할 수가 없다. 그러나 물리요법은 관절운동의 범위를 유지시키는데 도움을 주고, 항염증 코르티코스테로이드들은 근육 내구력을 지키는데 도움을 주며 다른 처방 약들도 근육 경련이나 강직을 다루는데 도움을 준다.

 

 

 

Becker muscular dystrophy is named after the German physician Peter Emil Becker, who first reported his research on this form of the disease in 1955.

 

A girl who inherited an abnormal gene from a carrier mom and an abnormal gene from an affected dad would have no normal X chromosome and would be the rare case of an affected female.