Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked, recessive neuromuscular disease that affects approximately 1 in 5000 live male births.1 Patients with DMD experience progressive muscle weakness, owing to the absence of functional dystrophin protein, and typically experience delayed walking, difficulty running or climbing stairs, and frequent falls.2,3 However, several nonmotor signs and symptoms (eg, behavioral issues, neurocognitive deficits, and speech delay) also can be associated with the disease.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Annemieke Aartsma-Rus, Madhuri Hegde, Tawfeg Ben-Omran, Filippo Buccella, Alessandra Ferlini, Pia Gallano, R. Rodney Howell, France Leturcq, Ann S. Martin, Anna Potulska-Chromik, Jonas A. Saute, Wolfgang M. Schmidt, Thomas Sejersen, Sylvie Tuffery-Giraud, Tags: Workshop/Symposium Summary Source Type: research
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