Wie wird die Duchenne-Muskeldystrophie DMD diagnostiziert?
Zum Nachweis des Vorhandenseins oder Fehlens von Dystrophin-Protein kann eine Muskelbiopsie durchgeführt werden. Die Muskelbiopsie macht jedoch die genetische Untersuchung nicht überflüssig. Sie ist nicht notwendig, wenn die Diagnose bereits durch eine genetische Untersuchung gesichert ist.
Was ist Morbus Duchenne?
Als Muskeldystrophie Typ Duchenne, kurz DMD, versteht man eine X-chromosomal-rezessiv vererbte Muskelerkrankung, die sich in der frühen Kindheit manifestiert und rasch zu Muskelschwäche, Atrophie der Muskulatur und Rollstuhlpflicht führt. Sie ist die häufigste Form der progressiven Muskeldystrophien im Kindesalter.
What does it mean when your dentist is a DMD?
If your dentist is a DMD, then he or she is a Doctor of Dental Medicine. A DMD is an academic degree awarded to students upon completion of their dental training program. Many universities offer a 4-year pre-doctoral program, which combines an academic education with clinical training to prepare students for the exciting field of dentistry.
Where is DMD located in the human body?
DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle.
Can a woman pass on DMD to her son?
Women who are DMD carriers can pass on the disease to their sons and their carrier status to their daughters. In a minority of cases, girls and women who are DMD carriers may themselves show symptoms of DMD, such as muscle weakness and heart problems. These symptoms may not show up until adulthood.
How often are duplications detected in the DMD gene?
In an unselected patient series the duplication frequency was 7%. In patients already screened for deletions and point mutations, duplications were detected in 87% of cases. There were four complex, noncontiguous rearrangements, with two also involving a partial triplication.