PURPOSE OF REVIEW: This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2. RECENT FINDINGS: The prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2, and new evidence indicates that the risk of cancer is increased in patients with the myotonic dystrophies. In addition, descriptions of the clinical symptoms and relative risks of comorbidities such as cardiac arrhythmias associated with myotonic dystrophy type 1 have been improved. SUMMARY: Myotonic dystrophy type 1 and myotonic dystrophy type 2 are both characterized by progressive muscle weakness, early-onset cataracts, and myotonia. However, both disorders have multisystem manifestations that require a comprehensive management plan. While no disease-modifying therapies have yet been identified, advances in therapeutic development have a promising future.
PURPOSE OF REVIEW: This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2. RECENT FINDINGS: The prevalence of myotonic dystrophy type 1 is better understood than the prevalence of myotonic dystrophy type 2, and new evidence indicates that the risk of cancer is increased in patients with the myotonic dystrophies. In addition, descriptions of the clinical symptoms and relative risks of comorbidities such as cardiac arrhythmias associated with myotonic dystrophy type 1 have been improved. SUMMARY:Myotonic dystrophy type 1 and myotonic dystrophy type 2 are both characterized by progressive muscle weakness, early-onset cataracts, and myotonia. However, both disorders have multisystem manifestations that require a comprehensive management plan. While no disease-modifying therapies have yet been identified, advances in therapeutic development have a promising future.
Authors: Bettine A H Vosse; Charlotte Seijger; Nicolle Cobben; Baziel van Engelen; Sander M J van Kuijk; Catharina Faber; Peter Wijkstra Journal: Respiration Date: 2021-05-07 Impact factor: 3.580
Authors: Tiago Mateus; Filipa Martins; Alexandra Nunes; Maria Teresa Herdeiro; Sandra Rebelo Journal: Int J Environ Res Public Health Date: 2021-02-12 Impact factor: 3.390
Authors: Tiago Mateus; Idália Almeida; Adriana Costa; Diana Viegas; Sandra Magalhães; Filipa Martins; Maria Teresa Herdeiro; Odete A B da Cruz E Silva; Carla Fraga; Ivânia Alves; Alexandra Nunes; Sandra Rebelo Journal: Int J Environ Res Public Health Date: 2021-04-06 Impact factor: 3.390
Authors: Yanting Huang; Xiaobo Sun; Huige Jiang; Shaojun Yu; Chloe Robins; Matthew J Armstrong; Ronghua Li; Zhen Mei; Xiaochuan Shi; Ekaterina Sergeevna Gerasimov; Philip L De Jager; David A Bennett; Aliza P Wingo; Peng Jin; Thomas S Wingo; Zhaohui S Qin Journal: Nat Commun Date: 2021-07-22 Impact factor: 17.694