Home | Neuromuscular | Duchenne muscular dystrophy (DMD) | Publications | Publication: Early treatment with ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

Publication: Early treatment with ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy

This case study, published in Acta Myologica, details an ambulant 2-year-old patient with nonsense mutation Duchenne muscular dystrophy (nmDMD), who received early treatment with a mutation-specific therapy in an expanded-access program

  • Read about the background, clinical presentation, and diagnosis of the patient, who began treatment with a mutation-specific therapy at 2 years of age
  • Review the clinical outcomes of early treatment with a mutation-specific therapy for nmDMD over 16 months, as measured by assessment of the patient’s motor, cognitive, pulmonary, and cardiac function

Bitetti I, Mautone C, Bertella M, et al. Acta Myologica. 2022;40(4):184–186

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US-DMD-0299 | March 2023
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