Steinert's congenital myotonic dystrophy: report of a patient

Authors

  • Reina Yudyt Meneses Agüero Hospital General Docente Universitario de Placetas. Villa Clara.
  • Lyz Mary Concepción Pacheco Hospital General Docente Universitario de Placetas. Villa Clara.

Keywords:

myotonic dystrophy/diagnosis, genetic diseases, inborn

Abstract

Steinert'scongenital myotonic dystrophy is a hereditary disease with a pattern of dominant autosomal inheritance that has broad forms of presentation and can occur from early life to adulthood. It presents with diverse symptoms including: respiratory distress, muscle weakness, hearing and visual difficulties, mental retardation and others. Its diagnosis is clinical and is confirmed with electromyography; the treatment is related to the forms of presentation of the disease. The case of a 19-year-old white longilinear pregnant woman is reported. She was married, with a husband of old age and a family history of Down syndrome. While conducting the cytogenetic and clinical examination of the patient it was striking her biotype and the difficulty releasing the fist when shaking hands. She undergoes electromyography studies reaching the diagnosis of Steinert'scongenital myotonic dystrophy.

Downloads

Download data is not yet available.

Downloads

How to Cite

1.
Meneses Agüero RY, Concepción Pacheco LM. Steinert’s congenital myotonic dystrophy: report of a patient. Acta Méd Centro [Internet]. 2012 Oct. 6 [cited 2025 Jun. 30];6(4):97-101. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/244

Issue

Vol. 6 No. 4 (2012): October-December

Section

Case Reports

License

Authors who have publications with this journal agree to the following terms:

  1. Authors will retain their copyright and assign to the journal the right of first publication of their work, which will simultaneously be subject to a Creative Commons License / Attribution-Noncommercial 4.0 International (CC BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
  2. Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g., depositing it in an institutional repository or publishing it in a monographic volume) as long as the initial publication in this journal is indicated.
  3. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which can produce interesting exchanges and increase citations of the published work. (See The effect of open access).