Making sense of genetic testing: The importance of a genetic diagnosis in DMD – Hear from our expert
Are you aware of the diagnostic techniques available for making a genetic diagnosis for children with suspected Duchenne muscular dystrophy (DMD)? Do you know about the critical importance of identifying the specific mutation?
Underscoring the importance of mutation types, Dr Aartsma-Rus discusses key steps for the early diagnosis of DMD. Mutations in the DMD gene eliminate or diminish dystrophin function, causing DMD and Becker muscular dystrophy (BMD; a milder inherited progressive muscle-wasting condition).1,2 As such, establishing a genetic diagnosis is critical for confirming diagnosis of DMD.3
Watch now to find out more about the:
- Disease continuum of DMD and the progressive loss of functionality
- Frequency and effect of different types of DMD-causing mutations on the dystrophin transcript
- Distinctions between mutations found in BMD and DMD
- Techniques available for making a genetic diagnosis for children with suspected DMD
- Importance of having a specific genetic diagnosis in the context of disease prognosis and genetic counselling
Prof. Dr. Annemieke Aartsma-Rus, Professor of Translational Genetics at Leiden University Medical Center (LUMC), the Netherlands, discusses the importance and methods of obtaining an early and accurate genetic diagnosis for DMD. She has played an important role in the development of antisense-mediated exon-skipping therapy for DMD during her PhD research at the Department of Human Genetics of the LUMC. In 2007, she became Group Leader of the Duchenne exon-skipping group. Since 2013, she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Genetic testing is the only way to diagnose DMD. If you want to know more, click here.
1. Emery AE. The muscular dystrophies. Lancet 2002; 359: 687–95.
2. Flanigan KM. Duchenne and Becker muscular dystrophies. Neurol Clin 2014; 32: 671–88.
3. Aartsma-Rus A, Ginjaar IB & Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 2016; 53(3): 145-51.