Therapeutic approaches for patients with nonsense mutations in the DMD gene

Authors

  • Teodora Chamova UMHAT "Alexandrovska"; Medical university – Sofia
  • Tania Dimitrova UMHAT "Alexandrovska"; Medical university – Sofia
  • Ivailo Tournev UMHAT "Alexandrovska"; Medical university – Sofia; New Bulgarian University - Sofia, Bulgaria

Keywords:

Duchenne, Ataluren, selective screening program

Abstract

Introduction: Duchenne muscular dystrophy is an X-linked rare genetic disease whose clinical onset is before the age of 3 years with predominantly proximal muscle weakness, waddling gait, difficulty climbing stairs, and squatting. Patients tend to lose independent ambulation before the age of 13 years. The introduction of standards of care and new etiopathogenetic therapeutic options change the natural history of the disease and improve the quality of life of patients.
Aim: To evaluate the effect of Ataluren on motor and respiratory function in four patients with DMD with proven nonsense mutations, treated and followed up at the Expert Center for Hereditary Neurological and Metabolic Diseases, Clinic of Nervous Diseases, University Hospital „Alexandrovska” and to present the criteria and results of the screening program for early diagnosis of boys with Duchenne muscle dystrophy.
Material and methods: The study encompassed 4 patients with genetically verified nonsense mutations in the DMD gene, who were treated with Ataluren for a period from 6 months up to 3 years, and their motor functions were evaluated using the 6 minutes walking test (6MWT) and Gowers sign and respiratory functions by examination of the forced vital capacity.
Results: Patients who started treatment later (11 years of age) had a stabilization of 6MWT and Gowers sign scores, while those with earlier initiation of treatment showed improvement in their motor and respiratory function within of the follow-up period.
Conclusion: Timely diagnosis and treatment are associated with better outcomes in patients, which is mediated by the introduction of selective screening programs among high-risk patient populations.

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Published

31.07.2022

How to Cite

Chamova, T., Dimitrova, T., & Tournev, I. (2022). Therapeutic approaches for patients with nonsense mutations in the DMD gene. Bulgarian Neurology, 23(1), 24–28. Retrieved from http://www.nevrologiabg.com/journal/index.php/neurology/article/view/101

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ORIGINAL PAPERS