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Tidsskr Nor Laegeforen ; 144(5)2024 Apr 23.
Artigo em Inglês, Norueguês | MEDLINE | ID: mdl-38651711

RESUMO

Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatment. We hope that this clinical review article may lead to more rapid diagnosis and better follow-up of this patient group.


Assuntos
Distrofia Miotônica , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/complicações , Humanos , Diagnóstico Tardio , Adulto
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