Adult-onset Myotonic Dystrophy Type Research Articles

Theory of mind impairment in adult-onset myotonic dystrophy type 1

Patients with myotonic dystrophy type 1 (DM 1) exhibit behavioral disorders and distinctive personality traits. We hypothesize that this is due to altered social cognitive function. To investigate the cognitive basis of this impairment in DM 1 patients, we examined their theory of mind (ToM) ability, which is the specific cognitive ability to understand the mental states of others. Nine adult-onset DM 1 patients (4 men and 5 women) performed 2 ToM tasks: “Reading the Mind in the Eyes” test and faux pas recognition test. DM 1 patients were found to be impaired in both ToM tests, but had no difficulty with control tasks designed to test visual and lexical comprehension. The present results indicate that social cognitive impairment in patients with adult-onset DM 1 is associated with ToM dysfunction, which could be due to the brain lesions associated with this disease.

Cerebral and muscle MRI abnormalities in myotonic dystrophy

Pathophysiological mechanisms underlying the clinically devastating CNS features of myotonic dystrophy (DM) remain more enigmatic and controversial than do the muscle abnormalities of this common form of muscular dystrophy. To better define CNS and cranial muscle changes in DM, we used quantitative volumetric and diffusion tensor MRI methods to measure cerebral and masticatory muscle differences between controls (n=5) and adults with either congenital (n=5) or adult onset (n=5) myotonic dystrophy type 1 and myotonic dystrophy type 2 (n=5). Muscle volumes were diminished in DM1 and strongly correlated with reduced white matter integrity and gray matter volume. Moreover, correlation of reduced fractional anisotropy (white matter integrity) and gray matter volume in both DM1 and DM2 suggests that these abnormalities may share a common underlying pathophysiological mechanism. Further quantitative temporal and spatial characterization of these features will help delineate developmental and progressive neurological components of DM, and help determine the causative molecular and cellular mechanisms.

High disease impact of myotonic dystrophy type 2 on physical and mental functioning.

The aim of the study was to investigate health status in patients with myotonic dystrophy type 2 (DM2) and determine its relationship to pain and fatigue. Data on health status (SF-36), pain (MPQ) and fatigue (CIS-fatigue) were collected for the Dutch DM2 population (n = 32). Results were compared with those of sex- and age-matched adult-onset myotonic dystrophy type 1 (DM1) patients. In addition, we compared the obtained scores on health status of the DM2 group with normative data of the Dutch general population (n = 1742). Compared to DM1, the SF-36 score for bodily pain was significantly (p = 0.04) lower in DM2, indicating more body pain in DM2. DM2 did not differ from DM1 on any other SF-36 scales. In comparison to the Dutch population, DM2 patients reported lower scores (indicating worse clinical condition) on the physical functioning, role functioning-physical, bodily pain, general health, vitality, social functioning, and role functioning-emotional scales (p < 0.01 on all scales). The difference was most profound for the physical functioning scale. In the DM2 group the severity of pain was significantly correlated with SF-36 scores for bodily pain (p = 0.003). Fatigue was significantly correlated with the SF-36 scores for role functioning-physical (p = 0.001), general health (p = 0.02), and vitality (p = 0.02). The impact of DM2 on a patients’ physical, psychological and social functioning is significant and as high as in adult-onset DM1 patients. From the perspective of health-related quality of life, DM2 should not be considered a benign disease. Management of DM2 patients should include screening for pain and fatigue. Symptomatic treatment of pain and fatigue may decrease disease impact and help improve health status in DM2, even if the disease itself cannot be treated.

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study

Sleep disturbances and excessive daytime somnolence are common and disabling features in adult-onset myotonic dystrophy type 1 (DM1). Our study used questionnaires, ambulatory polysomnography and the multiple sleep latency test to evaluate sleep-wake cycle and daytime sleepiness in unselected adult-onset DM1 patients. We recruited 18 patients affected by adult-onset DM1 and 18 matched controls. Sleep efficiency was <90% in 16/18 patients, and it was significantly reduced when compared with controls. Reduced sleep efficiency was associated with abnormal respiratory events (5/18 patients) and/or periodic limb movements (11/18 patients). The Periodic Limb Movement Index was significantly increased in DM1 versus controls. A significantly lower mean MSLT sleep latency was detected in DM1 versus controls, but it did not reach pathological levels. Our controlled study demonstrated sleep alterations in unselected consecutive DM1 patients. Periodic limb movements in sleep are commonly associated with sleep disturbance in adult-onset DM1, and it may represent a marker of CNS neurodegenerative processes in DM1.

Toward Understanding Cognitive Impairment in Patients with Myotonic Dystrophy Type 1

Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1.04), memory (z-score = -0.65), constructions (z-score = -1.29), and reasoning (z-score = -0.75) being slightly affected. Moderate-severe sleep apnea (apnea-hypopnea index [AHI] > or =15) was very frequent with most of the apneas being of the obstructive type. However, we found hardly any evidence of association between subjective, objective sleep parameters, and nps performance (p > .001). Thus, in our cohort of 23 adult MD1 patients, mild cognitive dysfunction, which is mostly related to the dysfunction of frontal association cortex and its underlying neural networks, does not seem to be significantly influenced by sleep disruption, which is mainly caused by obstructive apnea events.

Myotonic Dystrophy Type 1 Presenting With Ventilatory Failure

To report a series of patients with adult onset myotonic dystrophy type 1 (DM1) in whom the presenting symptom was ventilatory failure. Ventilatory failure is a common complication of DM1 and may be a presenting symptom in the setting of anesthesia or surgery, but it is not known to be a heralding manifestation. Case series. Three adults developed dyspnea leading to ventilatory failure, with no cardiac or pulmonary causes identified. Case 1 required intubation for ventilator support and was sedated with propofol. There was no clinical myotonia, and electromyography (EMG) demonstrated brief runs of myotonic discharges. Examination 3 weeks later off propofol revealed percussion myotonia, and EMG evidence of long runs of myotonic discharges. Genetic testing confirmed the diagnosis of DM1. Case 2 had cataracts and ptosis but no known diagnosis of DM and no previous neurological impairments. Case 3 was previously neurologically asymptomatic but her son had congenital DM1. The diagnosis was confirmed by EMG in cases 2 and 3, and both patients were managed with bilevel ventilation (BIPAP). Myotonic dystrophy type 1 should be considered in the differential diagnosis of acute ventilatory failure in adults.

Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2)

The authors performed neuropsychological testing in 21 patients with myotonic dystrophy type 1 (DM1) and 21 with type 2 (DM2) and healthy controls. They detected no general cognitive deficit in either DM1 or DM2, but compared to controls, both groups of patients were inferior in tests of prefrontal functioning. Patient groups did not differ in any measure. Mood status was not related to neuropsychological performance. This is consistent with findings of executive dysfunction in both DM1 and DM2.