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2 articles from the last 30 days matching "diagnosis"

ResearchRSS2 days ago

Starting corticosteroids earlier helps improve motor function in DMD

A large study found that children with Duchenne muscular dystrophy (DMD) who started taking corticosteroids—a type of anti-inflammatory medicine—earlier in life had better muscle strength and movement than children who started the medicine about a year later. This shows that starting treatment as soon as possible after diagnosis helps preserve how well kids can walk, run, and use their muscles.

WHY IT MATTERSIf you have a young child with DMD, this research provides strong evidence to discuss with your doctor about starting corticosteroid treatment immediately after diagnosis rather than waiting, as earlier treatment may significantly slow muscle weakness.
💬 Ask your doctorDuchenne muscular dystrophyRead →
ResearchPUBMEDApr 1

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

Researchers tested whether people could get genetic testing (genome sequencing) without always needing to see a genetics specialist first. They studied 313 people of all ages who had unexplained symptoms and could refer themselves or be referred by any doctor. The study found that people who referred themselves were just as likely to get a diagnosis as those referred by specialists. This suggests a new way to make genetic testing available to more people while still having genetics experts review the results.

WHY IT MATTERSIf this hybrid model works, patients with rare diseases could access genome sequencing faster and more easily without waiting for a genetics specialist appointment, potentially shortening the diagnostic odyssey that many rare disease patients experience.
💬 Ask your doctorrare genetic diseasesundiagnosed genetic conditionsRead →

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