Diagnosis and Management of Myotonic Dystrophy Type 1

This JAMA Insights discusses the signs and symptoms, diagnosis, and treatment of myotonic dystrophy type 1.

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Bibliographische Detailangaben
Veröffentlicht in:	JAMA : the journal of the American Medical Association 2024-04, Vol.331 (14), p.1227-1228
Hauptverfasser:	Hartman, Julia, Patki, Tejal, Johnson, Nicholas E
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Age Alternative splicing Cataracts Diagnosis DMPK protein Dystrophy Genetic screening Genetics Humans Metformin Muscle contraction Muscles Muscular dystrophy Mutation Myotonia Myotonic dystrophy Myotonic Dystrophy - classification Myotonic Dystrophy - diagnosis Myotonic Dystrophy - genetics Myotonic Dystrophy - therapy Quality of life Sleep and wakefulness Stimulants Symptom management
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Beschreibung
Zusammenfassung:	This JAMA Insights discusses the signs and symptoms, diagnosis, and treatment of myotonic dystrophy type 1.
ISSN:	0098-7484 1538-3598 1538-3598
DOI:	10.1001/jama.2024.2511