Cosa è la Duchenne?
Sommario
- Cosa è la Duchenne?
- Come si trasmette la distrofia muscolare di Duchenne?
- Cosa causa la distrofia muscolare?
- Are there any famous people with Duchenne muscular dystrophy?
- What are some characteristics of Duchenne muscular dystrophy?
- How does Duchenne muscular dystrophy affect the body?
- How is Duchenne muscular dystrophy diagnosed?
Cosa è la Duchenne?
La distrofia muscolare di Duchenne o DMD è una patologia neuromuscolare a trasmissione recessiva legata al cromosoma X, ed è caratterizzata da una degenerazione progressiva dei muscoli scheletrici, lisci e cardiaci, che genera debolezza muscolare diffusa.
Come si trasmette la distrofia muscolare di Duchenne?
Come tutte le malattie a trasmissione recessiva legate al cromosoma X la DMD si manifesta solo nei maschi. e viene trasmessa da donne sane portatrici del gene difettoso.
Cosa causa la distrofia muscolare?
Causa. Le distrofie muscolari sono causate da mutazioni del DNA. Nei casi più comuni, come la distrofia di Duchenne e di Becker, l'alterazione riguarda il gene preposto alla produzione della proteina distrofina, localizzato sul cromosoma X e responsabile del corretto funzionamento muscolare.
Are there any famous people with Duchenne muscular dystrophy?
- Anne Heche.
- Clay Matthews.
- David Foster.
- Eric Church.
- Floyd Mayweather.
- Jack Ingram.
- Justin Bieber.
- Kacey Musgraves.
What are some characteristics of Duchenne muscular dystrophy?
- It involves muscle weakness, which quickly gets worse. Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker muscular dystrophy) get worse much more slowly. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles).
How does Duchenne muscular dystrophy affect the body?
- By their mid-teens, some people with Duchenne MD will develop dilated cardiomyopathy. This condition affects the heart muscles, causing the heart's chambers to enlarge and the walls to get thinner. By their late-teens or early 20s, people with Duchenne MD may start to have breathing problems.
How is Duchenne muscular dystrophy diagnosed?
- Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include: For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the condition of the related gene.
