Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ sy...

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Vydáno v:	Revue neurologique Ročník 172; číslo 10; s. 572 - 580
Hlavní autoři:	De Antonio, M., Dogan, C., Hamroun, D., Mati, M., Zerrouki, S., Eymard, B., Katsahian, S., Bassez, G.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	France Elsevier Masson SAS 01.10.2016
Témata:	Adolescent Adult Age of Onset Aged Child Child, Preschool Clinical trials Cohort Studies Disease classification Disease Management Face - pathology Female France Healthcare Humans Infant Infant, Newborn Male Medical care Middle Aged Muscle Strength Myotonic dystrophy Myotonic Dystrophy - classification Myotonic Dystrophy - physiopathology Myotonic Dystrophy - therapy Myotonic dystrophy type 1 Rare diseases Registries Registry Steinert disease Terminology as Topic Trinucleotide Repeats Young Adult Rare diseases Myotonic dystrophy Myotonic dystrophy type 1 Medical care Clinical trials Healthcare Steinert disease Registry Disease classification
ISSN:	0035-3787
On-line přístup:	Získat plný text
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