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

• Published in: Neuromuscular disorders : NMD 2022-10, Vol.32 (10), p.829-835
• Main Authors: Karnebeek, I.E.A., Boon, H.T.M., Huis, A.M.P., Cup, E.H.C., Eggink, C.A., Schouten, M.I., van der Looij, H.J., van Engelen, B.G.M., Smulders, F.H.P., Voermans, N.C.
• Format: Article
• Language: English
• Subjects: Diagnostic delay; Early-onset cataract; Myotonic dystrophy type 1; Neuromuscular disease; Qualitative research
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2022.09.003

•Early-onset cataract is underrecognized as first manifestation of DM1.•Diagnostic delay is common and may have severe medical and emotional consequences.•Patients ask for more attention for the psychosocial consequences of a diagnostic delay.•Ophthalmologists can play a crucial role in the early diagnosis of DM1. 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.