How is duchenne muscular dystrophy inherited quizlet

It is characterized by progressive muscle wasting atrophy and weakness in the skeletal and heart muscles, leading to a decline in muscle function and heart problems. The disease is caused by a mutation in the DMD gene , which encodes for a protein called dystrophin.

Dystrophin acts to protect the muscles at each contraction, and a lack of dystrophin results in an accumulation of damage and eventual death of the muscle cells.

Genes are organized in chromosomes , long pieces of tightly packaged DNA. We all have 23 pairs of chromosomes. Without dystrophin, muscle cells become damaged and weaken.

Over time, children with Duchenne will develop problems walking and breathing, and eventually the muscles that help them breathe and the heart will stop working.

Duchenne is an irreversible, progressive disease. There is currently no cure for Duchenne. The first signs and symptoms of Duchenne are often noticed around the age of 2 or 3. Children with Duchenne may be slower to sit, stand or walk. Most are unable to run and jump properly due to weakness in the core muscles of the body.

Children with Duchenne are more likely to have conditions affecting the brain, such as mental health, learning, or seizure disorders. The key protein for muscle function that is missing in Duchenne, dystrophin, is also believed to have a role in brain development.

To learn more about important considerations for parents, visit Parent Project Muscular Dystrophy's Care for Duchenne resource. BMD is another type of muscular dystrophy with symptoms like Duchenne, but it is a milder form. The gender of affected individuals is important to note for the following disorder types: which gender is most affected by autosomal dominant disorders? Sign up to receive timely, useful information in your inbox. Page 1 of 3 Answers 1. Are genetic diseases treatable or preventable?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. What is nondisjunction and what does it lead to? What can be concluded from this pedigree? Therefore a daughter of this man will be worse of than the daughter of a woman who gets breast cancer. This is the list of simulations that will be added to your course. A structural abnormality in which material from one chromosome ends up on another chromosome.

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In the later stages of DMD, the muscle weakness progresses and more support will be needed for breathing. This type of treatment has improved over recent years, which has helped to improve the quality of life and outlook for people with DMD.

Teenagers and adults with DMD may develop a heart problem called cardiomyopathy , which means weakness of the heart muscle. With DMD, the cardiomyopathy does not usually cause much in the way of symptoms. Possible symptoms are tiredness, leg swelling, shortness of breath or an irregular heartbeat. Cardiomyopathy can be helped by medication. This treatment seems to work best if started at an early stage, before symptoms are noticed. So people with DMD are usually offered regular heart check-ups, starting from early childhood.

The check-ups usually involve a 'heart tracing' an electrocardiogram, or ECG to record the heartbeat and an ultrasound of the heart an echocardiogram, or echo. DMD is a very serious condition and it does shorten life.

Because the muscle weakness increases gradually over the years, complications eventually develop. The breathing or heart problems usually become more serious for older teenagers or people in their 20s. In the past, most people with DMD did not live beyond their early 20s. Improvements in treatment have meant that life expectancy has increased. At present, average life expectancy for people with DMD is 27 years.

However, there is a lot of individual variation in the severity of DMD and the individual life expectancy. The outlook prognosis may improve further in future, with advances in treatment. The most serious complication, and the usual cause of death for people with DMD, is the respiratory complications, such as a severe chest infection at the stage when lung function is already poor. However, carrying the DMD gene might affect you in one of the following ways:.

Passing on the gene. A woman who has the DMD gene can pass it on to her children. Normally there will be a 1 in 2 chance that the gene will be passed on to your child, as explained above.

It can be helpful to have advice from a specialist in genetics a geneticist , who can discuss your individual situation. In many cases, prenatal testing is possible, to find out whether an unborn child carries the DMD gene. Muscle symptoms. A small number of women carrying the DMD gene may develop some muscle weakness. This probably occurs in about 3 in women carrying the gene.

The muscle weakness is usually mild but there is a lot of individual variation. Rarely, there can be a muscle weakness similar to that in boys with DMD. If there is a weakness, it may increase progress slowly over time.

We do not know why some women with the DMD gene develop muscle weakness, while others do not have any symptoms. It may be due to a process called 'X inactivation'. In this process, the 'normal' X chromosome is not active and therefore cannot compensate for the 'abnormal' X chromosome which carries the DMD gene. Heart problems. Some women carrying the DMD gene may develop heart muscle disease cardiomyopathy or an abnormal heart rhythm. If this happens, it is usually milder and starts at a later age, compared to boys with DMD.

At present, there is a debate about how likely this problem actually is. Recent research from the UK found that most women with the DMD gene had only very minor changes found on heart check-ups.

Also, this research found no difference in life expectancy between women carrying the DMD gene and those without it. Other research suggested that 1 in 10 women with the DMD gene might develop some form of cardiomyopathy.

Therefore, some doctors are recommending regular heart check-ups for women who have the DMD gene. For example, they may suggest an ECG and an echo explained above once every few years, from around the age of However, doctors are uncertain as to how much this monitoring is useful or necessary.

There is a lot of research taking place aiming to improve treatment and perhaps find a cure for DMD. Some aspects of current research are:. Guidelines for the respiratory management of children with neuromuscular weakness ; British Thoracic Society Arch Dis Child.

Epub Jul 7. Cochrane Database Syst Rev. Birnkrant DJ, Bushby K, Bann CM, et al ; Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.