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2015, Number 2

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Rev Clin Esc Med 2015; 5 (2)

Femenina de 42 años con ictus y distrofia miotonica tipo 1

Coste MP, Quesada AC

Language: Spanish
References: 23
Page: 4-10
PDF size: 351.76 Kb.


ABSTRACT

Myotonic dystrophy (DM) is an autosomal dominant multisystem disease and the most common adult muscular dystrophy. It is a clinically heterogeneous entity, and at least two types can be distinguished: DM1 or Steinert disease characterized by cardinal symptoms (weakness, myotonia and cataracts) in the presence of suggestive family history, and DM2 which has a variable phenotype, a later onset muscle weakness and normal life expectancy. DM1 is characterized by multi-organ involvement including the central nervous system, eyes, heart, respiratory system, endocrine system, gastrointestinal tract and other, and their relationship with various neoplastic processes. Although there has been describe cardioembolic strokes in DM1 and DM2 may be associated with stroke-like episodes, these symptoms are unusual in the absence of predisposing heart condition. This is the first case report of a patient with DM1 with striking radiological findings and a stroke in the absence of structural heart disease.


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