Resumo

RAMIREZ SOSA, Pedro  e  VALLADARES JIMENEZ, Vilma Esther. Myotonic dystrophy Type I. Rev Ciencias Médicas [online]. 2013, vol.17, n.4, pp. 172-179. ISSN 1561-3194.

Introduction: Steinert's Myotonic Dystrophy is a multiple-system, autosomal dominant of variable penetrance disease caused by an expansion of the cytosine-thymine-guanine (CTG) triplet, in the gene which codes for myotonic dystrophy protein kinase in chromosome19q13. It is characterized by a phenomenon known as anticipation, thus its expression is greater in successive generations and it correlates with the size of expansion. From the clinical view point it is expressed by multiple-system disorders associated with a muscle-dysfunction, the most frequent characteristics are muscle weakness it progresses slowly, muscle atrophy and myotonic phenomenon. Case report: a 52-year old patient who was visited in his home during the study that involved disabled people in Canton, Quito, the patient suffered from Steinert's Myotonic Dystrophy,the the rest members of the family were as well examined; signs and symptoms of the disease were found in three other family members. Conclusions: the study demonstrated the non-existence of a system to perform genetic counselling in the community, which would permit the follow-up of the families and patients suffering from Steinert's Myotonic Dystrophy, this difficulty also impedes the acquisition of knowledge regarding the level of recurrence for this type of genetic disorder.

Palavras-chave : Muscular hypotonia; Myotonic dystrophy type I; Steinert disease.

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