Myotonic Steiner dystrophy in a family. Case Presentation
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, el...
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| Format: | Article |
| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2020-02-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/4431 |
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| author | María Octavina Rodríguez Roque Julio López Argüelles Ada Sánchez Lozano Didiesdle Herrera Alonso Leydi M. Sosa Águila Yansel Rodríguez Ramírez |
| author_facet | María Octavina Rodríguez Roque Julio López Argüelles Ada Sánchez Lozano Didiesdle Herrera Alonso Leydi M. Sosa Águila Yansel Rodríguez Ramírez |
| author_sort | María Octavina Rodríguez Roque |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b14c815aad5845379c82da86b8aa46c2 |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2020-02-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-b14c815aad5845379c82da86b8aa46c22025-01-30T21:28:55ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2020-02-011811301361776Myotonic Steiner dystrophy in a family. Case PresentationMaría Octavina Rodríguez Roque0Julio López Argüelles1Ada Sánchez Lozano2Didiesdle Herrera Alonso3Leydi M. Sosa Águila4Yansel Rodríguez Ramírez5Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.Hospital General Universitario Dr. Gustavo Aldereguía Lima. Cienfuegos.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.http://medisur.sld.cu/index.php/medisur/article/view/4431distrofia miotónicainformes de casos |
| spellingShingle | María Octavina Rodríguez Roque Julio López Argüelles Ada Sánchez Lozano Didiesdle Herrera Alonso Leydi M. Sosa Águila Yansel Rodríguez Ramírez Myotonic Steiner dystrophy in a family. Case Presentation Medisur distrofia miotónica informes de casos |
| title | Myotonic Steiner dystrophy in a family. Case Presentation |
| title_full | Myotonic Steiner dystrophy in a family. Case Presentation |
| title_fullStr | Myotonic Steiner dystrophy in a family. Case Presentation |
| title_full_unstemmed | Myotonic Steiner dystrophy in a family. Case Presentation |
| title_short | Myotonic Steiner dystrophy in a family. Case Presentation |
| title_sort | myotonic steiner dystrophy in a family case presentation |
| topic | distrofia miotónica informes de casos |
| url | http://medisur.sld.cu/index.php/medisur/article/view/4431 |
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