Having an eye for myotonic dystrophy on the experiences of patients and their support needs

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations (e.g. muscle weakness, fatigue, gastrointestinal complaints, cognitive symptoms). The phenomenon of anticipation (increase of repeat expansion) leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract (EOC) is defined as cataract with an onset before the age of 50. It is a common, measurable manifestation of the late or adult-onset type of DM1. However, this symptom is not always recognized as a manifestation of DM1, causing a delay in diagnosis. 

Ilse Karnebeek, nurse practitioner performed a qualitative study to obtain insight in patients’ experiences and reflections of diagnostic delay and the support needs of DM1 patient with EOC. The research group (including Fran Smulders and Eline Boon and, led by Nicol Voermans, associate professor of Neurology), published the results in Neuromuscular Disorders on October 1, 2022.  

Eight semi-structured interviews were held with purposive recruited participants. Concluding that all participants experienced  physical and/or psychosocial symptoms prior to diagnosis, including the EOC, which could have been explained by a DM1 diagnosis. Participants with (grand)children born during this diagnostic delay, felt that they were denied a choice regarding family planning. This resulted in feelings of grief, guilt, anger since at that time no further investigation was conducted regarding the cause of the EOC.

EOC is a warning sign for DM1 and if recognized, could decrease diagnostic delay and prevent the birth of children with a more severe form of DM1 and thereby emotional and psychosocial consequences. Ophthalmologists have a crucial role in diagnosing the disease and therefore awareness should be increased regarding this specific symptom for early diagnosis.

Find the study here: 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 - Neuromuscular Disorders (nmd-journal.com)