Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.

Autor: Karnebeek IEA; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Boon HTM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Huis AMP; Department of IQ Healthcare, Radboud University Medical Centre, Nijmegen, The Netherlands., Cup EHC; Department of Rehabilitation, Radboud University Medical Centre, Nijmegen,, The Netherlands., Eggink CA; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands., Schouten MI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van der Looij HJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Smulders FHP; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: nicol.voermans@radboudumc.nl.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Oct; Vol. 32 (10), pp. 829-835. Date of Electronic Publication: 2022 Sep 07.
DOI: 10.1016/j.nmd.2022.09.003
Abstrakt: Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1. Due to its multicausal nature, early-onset cataract is often not recognized as a feature of this disease, leading to diagnostic delay resulting in consequences for successive generations, treatment and counseling. A qualitative study with semi-structured interviews was performed with purposive sampling of eight participants with myotonic dystrophy type 1 and early-onset cataract to investigate the physical and psychosocial consequences experienced due to diagnostic delay. Prior to the early-onset cataract, all participants experienced other multisystem symptoms that could have been explained by myotonic dystrophy. The diagnostic delay had severe hereditary consequences: a subsequent generation with more severely affected (grand)children was born resulting in large emotional burden for the patients. To conclude, early-onset cataract is a warning sign and ophthalmologists play a crucial role in the early detection of myotonic dystrophy type 1 by recognizing this symptom and preventing the birth of severely affected children leading to emotional and psychosocial consequences.
Competing Interests: Declaration of Competing interests The authors report no competing interests.
(Copyright © 2022. Published by Elsevier B.V.)
Databáze: MEDLINE
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