Definition and causes
The word muskeldystrofi means amending the muscle architecture, and byDuchennes muskeldystrofithere is a gradual deterioration of the muscles (especially lårmusklerne), with the early loss of gangfunktion to follow.
Duchennes muskeldystrofi belonging to the group of muscle diseases, which called on the Danishmuscular atrophyand this type is discovered by the French doctor Duchenne. The disease is hereditary (so-called x-bottom recessive, see Genetics ), And therefore almost exclusively boys. The frequency is 30/100.000.
The cause of the disease is a defective gene that affect the production of a particular protein. Lack of this protein leads to the formation of connective tissue and fat deposited in muskelcellen, which also have changed the structure and slowly is destroyed.
In general, people with Duchennes muskeldystrofi lose gangfunktionen before 10 years of age.
Symptoms of Duchennes muskeldystrofi
The symptoms of the disease is found at an early age, where the childrenlearn to walk late,and when they must stand up, they have a very characteristic way to do this. It is said that theclimb up by themselves. The reason for this is the much reduced force in particular lårmusklerne. Another feature is that they have abnormallylarge lægmuskler. Normally, there will be a gradual loss of gangfunktionen, and most are dependent on the wheelchair in 12 years of age. When the person sitting in a wheelchair, will lie with symptoms from the back and chest, which will be misformet, and weather-trækningen gradually becomes difficult. Mentalt children will often be backward compared to peers.
Precautions and diagnosis
If there is a known disease with Duchennes muskeldystrofi in the family, can be offered genetic counselling in connection with the pregnancy. Here the doctor through a blood test to see if the woman carries the gene, which can cause disease.
Has it been a child, and believes that the above symptoms fit to the child, one should go to the doctor for a careful examination of the child. The diagnosis is made from blood samples, muskelundersøgelser, and genetic studies.
Consideration of Duchennes muskeldystrofi
The disease is not curable, and we can only alleviate the symptoms.
Thus, the aim is to equip the home after the large number of tools needed (special bed, ilttilskud etc.).
Some people get at an early age need of respirator because of weakened vejrtrækningsmuskler. Help for this can be obtained by the special treats teams.
Select and complications
Duchennes muskeldystrofi is, unfortunately, a disease in which gennemsnitslevealderen is around. 20 years. Life can be extended slightly through intensive physiotherapy. The most common cause of death is pneumonia , Which occurs because of the weakened åndedrætsmuskler and misformet chest. There may also arise disease of the heart muscle.
Prevention of Duchennes muskeldystrofi
There is offered genetic counselling to people who have the disease in the family. It also examines drengebørn with a blood test if they have delayed or abnormal gangfunktion at an early age.