DMD/BMD - 18 Exons Test

The DMD/BMD - 18 Exons Test is a genetic test that analyzes 18 exons of the DMD gene to detect mutations responsible for Duchenne and Becker Muscular Dystrophy.

This test is crucial for diagnosing Duchenne or Becker Muscular Dystrophy, determining carrier status in female relatives, and making informed decisions during pregnancy if there is an increased risk for DMD or BMD.

Individuals showing symptoms of muscle weakness or degeneration, family members of individuals diagnosed with DMD or BMD, and pregnant women with a family history of these conditions should consider getting tested.

Duchenne Muscular Dystrophy (DMD) is a severe form of muscular dystrophy characterized by rapid progression of muscle degeneration that occurs early in life.

Becker Muscular Dystrophy (BMD) is similar to DMD but is less severe and has a slower progression. Muscle weakness usually starts later in life compared to DMD.

While there's no cure, management includes physical therapy, medications, respiratory support, and sometimes surgical interventions to manage symptoms and improve quality of life.

Symptoms include muscle weakness, difficulty walking or running, frequent falls, difficulty getting up from a lying or sitting position, and muscle wasting.

Yes, DMD and BMD are hereditary conditions, passed down through families via the X chromosome.

Females are typically carriers of the mutated gene but can sometimes show mild symptoms of the disorder.

The DMD gene consists of 79 exons. The 18 exons selected for this test are among those most commonly affected by mutations causing DMD and BMD.

Results can indicate a mutation in one or more of the 18 exons analyzed, which may confirm a diagnosis of DMD or BMD, or indicate carrier status.

If the test results are positive, it is advisable to consult a genetic counselor or specialist for guidance on management and family planning.

Yes, expectant mothers with a family history of DMD or BMD may undergo this test for prenatal diagnosis.

There is currently no cure for DMD or BMD. Treatment focuses on managing symptoms and improving quality of life.

Genetic counseling is essential for understanding the implications of test results, the nature of DMD and BMD, and making informed decisions regarding family planning.

Gaining insights into Duchenne or Becker Muscular Dystrophy through the DMD/BMD - 18 Exons Test can be life-altering for individuals and families. With a positive diagnosis, adopting the proper management strategies and understanding the implications for family planning becomes paramount. Consulting healthcare professionals, particularly genetic counselors, and establishing a support system are essential steps following a diagnosis.