Why is Duchenne muscular dystrophy fatal?

Why is Duchenne muscular dystrophy fatal?

Duchenne causes the muscles in the body to become weak and damaged over time, and is eventually fatal. The genetic change that causes Duchenne — a mutation in the DMD gene — happens before birth and can be inherited, or new mutations in the gene can occur spontaneously.

What is a major complication of Duchenne muscular dystrophy?

By the late teens, DMD may also be characterized by additional potentially life-threatening complications including weakness and deterioration of the heart muscle (cardiomyopathy). Cardiomyopathy can result in impairment in the ability of the heart to pump blood, irregular heartbeats (arrhythmias), and heart failure.

What muscles are weak in Duchenne muscular dystrophy?

In the early stages, DMD affects the shoulder and upper arm muscles and the muscles of the hips and thighs. These weaknesses lead to difficulty in rising from the floor, climbing stairs, maintaining balance and raising the arms.

What limitations does a person with Duchenne muscular dystrophy have?

Individuals with muscular dystrophy usually exhibit contractures, a condition often associated with shortened muscles around the joints. Due to the abnormal and sometimes painful positioning of the joints, most individuals have extreme fatigue and weakness as well as speech, mobility, and fine motor limitations.

Who is most at risk for muscular dystrophy?

Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.

How does DMD affect the heart?

Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently.

Does DMD get worse over time?

DMD causes weakness and muscle loss that spreads throughout your child’s body. DMD appears in young boys, usually between ages 2 and 5. It causes muscle loss that gets worse over time.

Can DMD patients have kids?

Carriers may not have any disease symptoms but can have a child with the mutation or the disease. DMD carriers are at risk for cardiomyopathy. Although DMD often runs in a family, it is possible for a family with no history of DMD to suddenly have a son with the disease.

What are the symptoms of Duchenne muscular dystrophy (DMD)?

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [1] Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak.

What does ‘waddling’ look like in children with DMD?

Walking may look different with a ‘waddling’ type of walk. The boy may be late in starting to walk (although many children without DMD also walk late). When you pick the child up, you may feel as if he ‘slips through your hands’, due to looseness of the muscles around the shoulder. The calf muscles may look bulky, although they are not strong.

What is Becker muscular dystrophy (BMD)?

Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene. The following list includes the most common signs and symptoms in people with Duchenne muscular dystrophy (DMD).

What is the most severe end of the muscular dystrophy spectrum?

The most severe end of the spectrum is known as Duchenne muscular dystrophy lacking completely dystrophin protein. Decreased or truncated dystrophin protein is associated with less severe form is Becker muscular dystrophy.