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Revista Clínica de Medicina de Familia
versão On-line ISSN 2386-8201versão impressa ISSN 1699-695X
Resumo
ROSADO BARTOLOME, Alfredo e SIERRA SANTOS, Lucía. Steinert myotonic dystrophy. Rev Clin Med Fam [online]. 2015, vol.8, n.1, pp.79-83. ISSN 2386-8201. https://dx.doi.org/10.4321/S1699-695X2015000100012.
The complexity and variability of the manifestations of myotonic dystrophy tipe 1, or Steinert disease, pose difficulties for clinical follow-up. This is described as fragmentary, inadequate or even poor. The most disabling features are often manifestations such as excessive daytime sleepiness, fatigue, and digestive and cognitive behavior disorders. But yet it is heart, breathing or swallowing problems that reduce life expectancy.
Palavras-chave : Myotonic Dystrophy; Rare Diseases; Neuromuscular Diseases.