Medisur (Feb 2020)

Myotonic Steiner dystrophy in a family. Case Presentation

  • María Octavina Rodríguez Roque,
  • Julio López Argüelles,
  • Ada Sánchez Lozano,
  • Didiesdle Herrera Alonso,
  • Leydi M. Sosa Águila,
  • Yansel Rodríguez Ramírez

Journal volume & issue
Vol. 18, no. 1
pp. 130 – 136

Abstract

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Myotonic dystrophy type I or Steinert's disease is of autosomal dominant genetic origin. It is characterized by multisystemic alterations such as musculoskeletal, cardiac, ocular, and endocrine and the most manifest that are usually neurological.The diagnosis is established by clinical data, electromyography and genetic studies. So far the treatment is only symptomatic. The case of a family with Steinert's disease is presented, in which mother and son present the clinical and electromyographic manifestations of the disease.

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