Question 1

What is Duchenne Muscular Dystrophy (DMD)?

Accepted Answer

Duchenne muscular dystrophy is a rare, progressive genetic disorder characterized by muscle weakness and wasting, particularly in skeletal, respiratory, and cardiac muscles, due to lack of dystrophin. It primarily affects boys.
Source: NIH GARD – DMD overview

Question 2

What causes Duchenne muscular dystrophy?

Accepted Answer

DMD is caused by mutations in the DMD gene, which prevents the body from producing dystrophin. This gene is located on the X chromosome, making the disorder X-linked and most common in males.

Question 3

Can Duchenne muscular dystrophy be detected before birth?

Accepted Answer

Yes. Prenatal testing and carrier screening can detect mutations in the DMD gene. These tests are typically offered to families with a known history of the disorder or when requested during pregnancy.

Question 4

How is Duchenne muscular dystrophy diagnosed?

Accepted Answer

Diagnosis often begins with observation of delayed motor milestones in early childhood, followed by blood tests showing elevated creatine kinase (CK) levels. Genetic testing and muscle biopsy confirm the diagnosis.

Question 5

What are the early symptoms of Duchenne muscular dystrophy?

Accepted Answer

Early signs usually appear between ages 2 and 5 and may include difficulty running, frequent falls, delayed walking, and enlarged calf muscles. Over time, muscle weakness spreads and worsens.

Question 6

How is Duchenne muscular dystrophy inherited?

Accepted Answer

DMD is inherited in an X-linked recessive pattern. Females may be carriers without symptoms, while males with the mutated gene will typically develop the condition.

Question 7

Why is Duchenne muscular dystrophy more common in males?

Accepted Answer

Since the DMD gene is located on the X chromosome, males (who have only one X chromosome) are more likely to be affected. Females typically have a second X chromosome that compensates for the mutation.

Question 8

Can Duchenne muscular dystrophy be cured or prevented?

Accepted Answer

There is currently no cure. However, treatments-such as corticosteroids, physical therapy, cardiac and respiratory support, and emerging gene therapies-can slow progression and improve quality of life. Genetic counseling is essential for prevention in families.
Source: MedlinePlus – Treatment and management of DMD

Question 9

How does Duchenne muscular dystrophy affect the body over time?

Accepted Answer

DMD leads to progressive muscle weakening, loss of mobility, difficulty breathing, and eventual heart and lung complications. Most individuals use a wheelchair by their early teens.

Question 10

What is the life expectancy for someone with Duchenne muscular dystrophy?

Accepted Answer

Life expectancy for individuals with DMD has improved with modern care. Median survival is now between the mid?20s and early 30s, and some people live into their 30s or 40s. Without ventilatory assistance, median survival is around 22 years; with advanced care, survival can extend to 30?36 years.
Source: PMC Sweden Cohort Study – Median survival ~29.9 years.

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