Flores-López EN, Tovilla-Ruiz CK, García-Padilla E, Sandoval-Gutiérrez RB, Álvarez-Torrecilla LC

Language: Spanish
References: 31
Page: 195-203
PDF size: 545.14 Kb.

ABSTRACT

Myotonic dystrophy type I or Steinert’s disease is a multisystemic disease of autosomal dominant genetic origin, generated by an alteration at trinucletotide CTG expansion located in the 3’ end of the gene DPKM (myotonic dystrophy protein kinase) on chromosome 19q13.3 with alterations in skeletal muscle, heart, eye, endocrine and, mainly, neurological. It has four clinical forms; its diagnosis is based on genetic studies, clinical data and electromyography. So far the treatment is just symptomatic and there are many ongoing studies of genetic translocations. This paper reports the case of a family with the Steinert’s disease where six members were deceased secondary to the clinical manifestations of this disease.

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