| Autor: |
Lisset Ley Vega, Jesús Arturo Satorre Ygualada, Lourdes Rodríguez Royero |
| Jazyk: |
Spanish; Castilian |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
Acta Médica del Centro, Vol 3, Iss 1, Pp 50-54 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
2709-7927 |
| Popis: |
In 1861 Duchenne described the case of a male patient suffering from a pseudohyperthrophic progressive myopathy with a heredity link to gender. Duchenne's progressive muscular dystrophy is considered the most common and important form of this group of muscular illnesses. It has a recessive character linked to the X chromosome and affects one out of 3 000 born alive males. The abnormal gene is located at the locus Xp21. It hinders the synthesis of dystrophin causing the proliferation of a collagen and the fat infiltration of the muscular tissue. A 13 year old male patient, who had a diagnosis of Duchenne progressive muscular atrophy since age 5, is presented. In these cases the therapeutic procedures are limited to the treatment of the complications associated to Duchenne muscular dystrophy for there is not a specific therapy that stops the progression of this illness nowadays. A multidiscipline consultation due to the apparent recovery of the patient was carried out and it was decided to discharge him. His subsequent evolution presented some hospitalizations due to recurrent bronchopneumonia and cardiovascular distress events. The patient finally died. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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