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
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.
Dr. Luca Bello discusses the importance of early diagnosis of DMD and how to recognise the early signs and symptoms (muscle weakness, not walking by 16-18 months, calf hypertrophy, cognitive and speech delay). If you suspect DMD, perform a creatine kinase (CK) test.
Watch this video to hear from Dr. Luca Bello, Physician Neurologist from Padova, Italy discussing the diagnostic journey for a DMD patient. Starting with a creatine kinase (CK) test to the importance of an accurate diagnosis through genetic testing to enable the correct medical management options to be identified.
Don’t wait to investigate suspicions of Duchenne muscular dystrophy. Order a CK test, elevated CK levels should prompt referral to a neuromuscular specialist for further testing.
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Developmental delay should trigger a creatine kinase (CK) test2,3
Family members of an individual with DMD should receive genetic counselling to establish who is at risk of being a carrier.1
Carrier genetic testing should be performed in female relatives of a boy or man who has been genetically confirmed to have DMD.1
Carrier testing may help reduce the transmission of Duchenne muscular dystrophy and improve outcomes for women at risk.1-4 Click here for the 2018 Duchenne Care Considerations.
Remain ambulatory for longer
Preserve their pulmonary and cardiac function longer
Have a better quality of life
Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.
Early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimize the risks of complications of the disease.
If you see signs and symptoms of Duchenne muscular dystrophy, order a creatine kinase (CK) test – click here to learn more
Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2
Female carriers can pass on Duchenne muscular dystrophy to their children
Female carriers need medical assessment and follow-up
Genetic testing is the only way to determine the specific mutation causing Duchenne muscular dystrophy and could help patients get on the right treatment pathway1,2
A CK test should be carried out if:
|IF CK IS ELEVATED|
(Normal range is generally up to 250 U/L*)1
|Refer to neuromuscular specialist for Duchenne muscular dystrophy gene testing6|
|IF CK IS NORMAL||Does not rule out other neuromuscular disorders1|
*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.1
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families1,9
They provide education about DMD and its therapeutic options
They can coordinate diagnostic genetic testing
They can establish who is at risk of being a carrier and organise carrier genetic testing
They can discuss family planning options
They provide emotional counselling
(excluding UK and Ireland)
Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
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