Duchenne and Becker Muscular
Dystrophy

Duchenne muscular dystrophy (DMD) is an aggressive and lethal neuromuscular disorder that is characterized by proximal muscle weakness and wasting. The X-linked disease affects boys of all ethnic origins. DMD has a worldwide estimated prevalence of 1 in 3500 live male births. Approximately 8,000 males in the United States (19 to 95 people per million) are affected with DMD, with a worldwide prevalence of an estimated 63 people per million. Females are typically carriers of the mutations and are not clinically affected.

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Testing Services for DMD/BMD

Athena Diagnostics offers a series of blood tests to assist physicians in diagnosing patients with Duchenne and Becker muscular dystrophies. The diagnostic accuracy of these tests is virtually 100% and ends the need for a painful muscle biopsy.

Benefits of Testing

• Avoid muscle biopsy: Since Athena’s blood tests offer virtually 100% accuracy for DMD/BMD diagnosis, physicians do not have to do a muscle biopsy confirmation.
• Differentiate between Duchenne and Becker muscular dystrophy: Since DMD is much more severe than BMD, and since BMD sometimes presents only as a cardiomyopathy, it is very important to differentiate the two.
• Rule-out DMD/BMD in patients with a non-specific muscular dystrophy phenotype: Some times patients look like they have DMD or BMD from a clinical perspective, but may actually have some other muscular dystrophy. Blood tests from Athena may help rule-out DMD or BMD in these patients.
• Understand the inheritance pattern in the family: Duchenne and Becker muscular dystrophies are inherited in x-linked recessive fashion whereas other dystrophies that look similar clinically are inherited in autosomal dominant or recessive manner. This helps in understanding the risk of having a child with the muscular dystrophy.
• Provide specific mutation analysis: Patients with mutations such as “nonsense” or “stop codon” may be able to participate in certain clinical trials. Please visit www.ClinicalTrials.gov for more information.

Blood Tests Available

Athena offers two blood-based panels – for males and females – as well as the individual components of the panels, so physicians can choose the right test for the patient. The panels are performed in a reflexive manner to minimize the cost of testing - Athena will first analyze the entire DMD gene for deletions and duplications. If a disease-causing mutation is found in this analysis, Athena will send a final report describing the mutation. If no mutations are found in the first analysis or if the mutations cannot be confirmed, Athena will then perform sequence analysis of all 79 exons and send a final report indicating the findings of both the deletion/duplication and the sequence analysis. Please call 866-AthenaDx for more information.

1. DMD Del/Dup/Seq Reflexive Test – Males (Ordering details): This test is helpful in evaluating male patients suspected to have Duchenne or Becker muscular dystrophy. This test should be ordered only on one male in a family. Additional family members (male and female) may be tested at a much lower cost using either the deletion/duplication test or the familial mutation analysis depending the result of this test (see below).
   
2. DMD Del/Dup/Seq Reflexive Test – Females (Ordering details): This test is helpful in evaluating female patients suspected to be carriers of Duchenne or Becker muscular dystrophies. This test should be ordered only if no affected male in the family is available for testing. If an affected male is available for testing, they should be tested first.
   
3. DMD DNA Del/Dup Test – Males (Ordering details): This test evaluates deletions and duplications in the DMD gene in male patients. This is primarily used to diagnose male family members of patients with a confirmed deletion or duplication in the DMD gene.
   
4. DMD DNA Del/Dup Test – Females (Ordering details): This test evaluates deletions and duplications in the DMD gene in female patients. This is primarily used to diagnose female family members of patients with a confirmed deletion or duplication in the DMD gene.
   
5. DMD DNA Sequencing Test (Ordering details): This test evaluates the DMD gene for sequence variants that cause Duchenne or Becker muscular dystrophy. This is primarily used to diagnose patients previously tested and found not to have deletions or duplications in the DMD gene.
   
6. DMD Familial Mutation Evaluation (Ordering details): This test evaluates specific exons in the DMD gene for sequence variants. This is primarily used to diagnose family members of patients with a confirmed sequence variant in the DMD gene.
   

Thank you for your interest in Athena’s diagnostic testing services for Duchenne and Becker muscular dystrophies. To order one of the tests above, please download the test ordering kit and take it to your neurologist or MDA Clinic. For more information, please call us at 866-AthenaDx .