How does Duchenne muscular dystrophy affect the patient?

As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. In addition, the calves appear enlarged in most patients. The disease is progressive and most affected individuals require a wheelchair by the teenage years.

How does muscular dystrophy affect a person’s life?

Muscular dystrophy refers to a group of genetic muscle-wasting disorders. All muscular dystrophies cause muscle weakness, but life expectancy can vary dramatically between types of muscular dystrophy. While some cases may be mild and progress slowly, others can cause severe muscle weakness and disability.

How does muscular dystrophy affect you emotionally?

While most people living with Duchenne have no issues with mental health, there are increased risks of delayed development, as well as learning and behavior issues, difficulties with social interactions, and issues with emotional adjustment.

Who is usually affected by Duchenne muscular dystrophy?

Duchenne muscular dystrophy mostly affects boys and occurs in one in 3,500 to 5,000 newborns. There is no higher risk for any ethnic group. Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.

How long does someone with DMD live?

Although there isn’t a cure, the outlook for people with DMD is better than it has ever been. Years ago, children with the disease usually didn’t live beyond their teens. Today, they live well into their 30s, and sometimes into their 40s and 50s.

Which parent carries the muscular dystrophy gene?

DMD is inherited in an X-linked pattern because the gene that can carry a DMD-causing mutation is on the X chromosome. Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent.

How does Duchenne muscular dystrophy affect the body?

Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The DMD gene is the second largest gene to date, which encodes the muscle protein, dystrophin.

What happens if you don’t have dystrophin in your body?

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.

Are there any new drugs for Duchenne muscular dystrophy?

FDA-approved indication: December 2019, golodirsen (VYONDYS 53) was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.

What are the symptoms of muscular dystrophy in boys?

Progressive enlargement of the heart ( cardiomyopathy) The first symptoms of DMD usually occur in boys in early childhood, and include muscle weakness and clumsiness. Developmental milestones such as sitting and walking are often delayed. By the early teens, most boys with DMD are using a wheelchair.