How is DMD Inherited?
DMD is inherited in an
X-linked recessive pattern. This means the defective gene that causes DMD is located on the X chromosome. Males, having only one X chromosome, are more frequently affected. Females, having two X chromosomes, are usually carriers and rarely show symptoms.
When Do Symptoms Usually Appear?
Although DMD is a
genetic disorder present at birth, symptoms usually appear in early childhood, typically between ages 2 and 6. However, it is crucial to understand that some of its early signs can be subtle and might not be apparent in the
neonatal period.
What are the Early Signs of DMD?
Early signs of DMD may include delayed motor milestones such as sitting, standing, or walking. Affected infants and toddlers might display enlarged calf muscles, frequent falls, difficulty getting up from the floor, and a
waddling gait. These symptoms reflect the progressive weakness of the muscles.
How is DMD Diagnosed?
Diagnosis of DMD often begins with a clinical evaluation of the child’s physical symptoms and family history. Important diagnostic tests include:
Creatine Kinase (CK) Test: Elevated levels of CK, an enzyme released by damaged muscles, can indicate DMD.
Genetic Testing: Identifies mutations in the dystrophin gene.
Muscle Biopsy: Examines a small sample of muscle tissue for the presence and quantity of dystrophin protein.
Is There a Cure for DMD?
Currently, there is no cure for DMD. However, treatments are available to help manage symptoms and improve quality of life. These include:
Can DMD Be Prevented?
Since DMD is a genetic disorder, it cannot be prevented. However,
genetic counseling can help at-risk families understand their risks and make informed decisions. Prenatal testing and carrier testing can provide insights into the likelihood of having a child with DMD.
What is the Prognosis for Individuals with DMD?
The prognosis for individuals with DMD varies. While there is no cure, advancements in medical care have significantly improved the lifespan and quality of life for those affected. Most individuals with DMD will eventually require a wheelchair, and life-threatening complications often arise from respiratory or cardiac failure.
Conclusion
Duchenne Muscular Dystrophy is a serious and progressive genetic disorder that affects muscle function. Although it typically presents symptoms in early childhood, understanding its nature and early signs is crucial for timely diagnosis and management. While there is no cure, appropriate treatments and supportive care can greatly improve the quality of life for those affected.
