Myotonic dystrophy type 1 - a multiorgan disorder
Tidsskr Nor Laegeforen. 2024 Apr 16;144(5).
doi: 10.4045/tidsskr.23.0687.
Print 2024 Apr 23.
[Article in
English,
Norwegian]
Affiliations
- 1 Seksjon for sjeldne nevromuskulære tilstander, Oslo universitetssykehus, og, Enhet for medfødte og arvelige nevromuskulære tilstander, Oslo universitetssykehus, Rikshospitalet.
- 2 Avdeling for nevrologi, revmatologi og rehabilitering, Drammen sykehus, Vestre Viken.
- 3 Barneavdeling for nevrofag, Oslo universitetssykehus, og, Enhet for medfødte og arvelige nevromuskulære tilstander, Oslo universitetssykehus, Rikshospitalet.
- 4 Nevrologisk avdeling, Haukeland universitetssjukehus.
- 5 Enhet for medfødte og arvelige nevromuskulære tilstander, Oslo universitetssykehus, Rikshospitalet, og, Vikersund Kurbad.
- 6 Barnehabiliteringen, Sykehuset i Vestfold, Tønsberg.
- 7 Tønsberg.
- 8 Frambu kompetansesenter for sjeldne diagnoser.
- 9 Oslo.
Abstract
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.
MeSH terms
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Adult
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Delayed Diagnosis
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Humans
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Myotonic Dystrophy* / complications
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Myotonic Dystrophy* / diagnosis