Diagnosis of Myotonic Dystrophy Demonstrates an Association With Depression


Findings from a cross-sectional survey revealed a significant association between depression and a diagnosis of myotonic dystrophy, and that symptoms impacting quality of life are more common in neuromuscular disorders.

Anthony Rainey, MD, neurologist Lehigh Valley Health Network

Anthony Rainey, MD

A cross-sectional survey of 112 patients showed a significant association between depression and a diagnosis of myotonic dystrophy.1 These findings reveal that symptoms that impact quality of life are more common in people with neuromuscular disorders.

Muscle weakness, though often the main symptoms, is not the only symptom of neuromuscular disorders such as myotonic dystrophy and myasthenia gravis, as pain and fatigue are also associated with these disorders and can impact patient well-being. Notably, though, there was not a statistically significant association between the diagnosis and symptoms of fibromyalgia, sleep quality, fatigue, or pain.

Presented at the 2022 American Association of Neuromuscular & Electrodiagnostic Medicine Annual Meeting (AANEM), held September 21-24, in Nashville, Tennessee, by Anthony Rainey, MD, neurologist Lehigh Valley Health Network, and colleagues, the findings showed that 51% of study participants reported fatigue on the modified fatigue index, while 39% reported severe pain on the Brief Pain Inventory. The total number of patients that participated in the survey included 23 patients with myasthenia gravis and 20 patients with myotonic dystrophy type 1 or type 2.

As for the eligible patients, those diagnosed with a neuromuscular condition completed a survey which consisted of the Brief Pain Inventory, the Center for Epidemiologic Studies Depression Scale Revised, the Modified Fatigue Impact Scale, and the Pittsburgh Sleep Quality Index. Other measures for the survey included the Widespread Pain Index and Somatic Symptom scale from the Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks– American Pain Society Pain Taxonomy diagnostic criteria for fibromyalgia. The Fisher exact test was also used to calculate and analyze the association of diagnosis and symptoms.

This study is supported by previous research by Winblad et al in which the results displayed the signs of clinical depression were prevalent in 32% (n = 10) of the patients with myotonic dystrophy type 1, comparable with ratings in the clinical contrast group.2 Both groups in the study had mild to moderate depressive conditions. In the myotonic dystrophy type 1 group, there was a longer duration of clinical symptoms associated with lower scores on the Beck Depression Inventory scale.

The previous research findings indicated that there were significantly more myotonic dystrophy type 1 patients than normative collectives that showed signs of clinical depression.2 Also, there were higher educational levels that correlated with higher scores on depression. In addition, the researchers found that there was a negative association with brain white matter lesions.

Based on the conclusions of this research, both groups suggested that depression in myotonic dystrophy type 1 has to be further investigated, and particularly more understood in the context of factors directly associated with the disease using both medication and proper behavioral and physical interventions.1,2

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1. Rainey A, Chuquilin M, Wymer J, Subramony S. Pain and Quality of Life in People with Neuromuscular Disorders in Clinic: A Crosssectional Survey. Presented at: AANEM 2022; September 21-24; Nashville, TN. Abstract 52.
2. Winblad S, Jensen C, Månsson JE, Samuelsson L, Lindberg C. Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates. Behav Brain Funct. 2010;6:25. doi:10.1186/1744-9081-6-25
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