The early diagnosis of Duchenne muscular dystrophy (DMD) while patients are still asymptomatic may result in better clinical outcomes and improved motor function, according to a study recently published in the Turkish Journal of Physical Medicine and Rehabilitation.
The early diagnosis of DMD has long been an important factor in improving outcomes further down the road. The study’s authors sought to assess how an early diagnosis of DMD made during the asymptomatic stage might influence the course of the disease.
They recruited 136 male participants with a confirmed diagnosis of DMD made between March 2022 and February 2023. Various parameters of motor strength and well-being were carefully measured, including serum creatinine kinase levels, muscle strength and motor function.
What is creatine kinase?
Creatine kinase (CK) is an enzyme found in muscles. When muscles become damaged, CK leaks out of the muscles and into the bloodstream. In diagnosing DMD, CK levels are checked in a blood sample and if they are unusually high, this is a key indicator of DMD.
For patients who were asymptomatic at the time of diagnosis, the mean age of diagnosis was 2.5 years. Among clinically symptomatic patients, the age of diagnosis was a few years later, at 4 years.
Among patients who were under 10 years of age, researchers found no statistically significant difference in terms of clinical and laboratory parameters, in addition to motor function. However, among patients who were 10 years of age and older, patients who were diagnosed while asymptomatic had better clinical outcomes, motor function and motor strength compared with those who were only diagnosed when symptoms became apparent.
Read more about DMD testing and diagnosis
This study suggests that young patients who were asymptomatic and diagnosed based on raised creatinine levels had some evidence of a better disease course, especially when age was taken into consideration.
“In conclusion, most current therapies are beneficial, as long as the patients have sufficient muscle tissue to be protected, which corresponds to the earlier stages of the disease,” the authors of the study wrote. “Thus, researchers and clinicians should promote the methods for earlier diagnosis, which includes biochemical tests, genetic screening, or, in the worst case, early identification through subtle clinical signs.”
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