No timely improvements in musculoskeletal atrophy diagnosis in 3 decades, study finds

Despite extensive initiatives seeking improvements, the time it takes for an individual Duchenne muscular dystrophy A study reported that DMD for the correct diagnosis has remained largely unchanged over the past three decades.

It still takes more than two years, on average, from the time symptoms are first noticed to the time patients are diagnosed — delays that cost valuable treatment time, according to the researchers.

“The time to diagnosis of DMD among males without a family history is unchanged and results in missed opportunities for timely genetic counseling, implementation of standards of care, access to newly approved disease-modifying drugs, and participation in clinical trials,” they wrote.

Furthermore, the study demonstrated “later persistent” diagnoses among minority patients.

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the study, “Time to diagnosis of Duchenne muscular dystrophy unchanged: results of the Muscular Dystrophy Monitoring, Tracking and Research Network (MD STARnet), 2000-2015.“in the magazine muscle and nerve. The work was funded by the Centers for Disease Control and Prevention (CDC), a health protection agency of the US government, among others.

The earlier in life patients with DMD receive a correct diagnosis, the earlier they can start treatment and supportive care. This care is generally associated with better long-term outcomes. More and more new Treatments When available, the importance of early diagnosis increases, according to the researchers.

Earlier study Published in 2009, researchers at the CDC assessed age at diagnose for Duchenne muscular dystrophy patients born from 1982 through 2000. They found that the mean age at diagnosis was just under 5 years, and that there were significant delays in diagnosis. The researchers had noted that “the first signs or symptoms [of DMD] A mean age of 2.5 years was indicated.”

At the time, the Centers for Disease Control and Prevention developed new initiatives aimed at shortening the time for diagnosis. Furthermore, on its website, the CDC links to a A tool for parents Concern about the physical development of their children. Advocacy groups have also called for a better diagnosis of muscular dystrophy.

Now, researchers have analyzed the age at diagnosis of 221 males, born from 2000 to 2015, with a specific or probable diagnosis of DMD.

Patients were followed up at sites across the United States, in Colorado, Iowa, New York, North Carolina, South Carolina and Utah. In terms of race and ethnicity, 67.9% were non-Hispanic whites, 6.8% were non-Hispanic black patients, and 16.7% were Hispanic. The rest is unknown. None of the patients had a family history of Duchenne muscular dystrophy.

Among all patients, the average age at which caregivers first noticed symptoms He was 2.7 years old. The average age at which patients first took a creatine kinase (CK) test, an indicator of muscle damage, was 4.6 years.

The researchers note that ages on the CK test were significantly later among non-Hispanic black patients than in non-Hispanic white individuals. Age at first concern and initial visit to a specialist clinic significantly delayed for black patients.

The median age when patients had confirmed diagnostic tests for DMD — genetic testing or muscle biopsy — was 4.9 years. On average, the researchers noted, this is more than two years after symptoms first appeared.

Non-Hispanic whites were younger at the final diagnosis than Hispanics and non-Hispanic blacks.

In this study, we demonstrated a consistent 2.2-year interval between first signs and symptoms of DMD and confirmation of diagnosis and a mean age of 4.9 years at diagnosis among males without a family history of DMD in selected geographic areas of the United States. , the researchers concluded.

“This interval between symptom onset and diagnosis has not changed in the past three decades and is consistently delayed in minority groups,” they added.

The team highlighted that testing babies at birth for this disorder – called newborn screening – could improve the speed and accuracy of diagnosing muscular dystrophy.

“Newborn screening (NBS) for musculoskeletal atrophy can ensure early diagnosis and help mitigate existing racial disparities,” they wrote. “Unchanged Diagnostic Interval, recent FDA [U.S. Food and Drug Administration] The approval of four … drugs, and preliminary results of successful gene transfer in children with Duchenne muscular dystrophy aged 4 to 7 years confirmed the potential value of NBS for DMD.”