A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1

Laberge, Luc; Bégin, Paul; Dauvilliers, Yves; Beaudry, Michel; Laforte, Mario; Jean, Stéphane; Mathieu, Jean

doi:10.1136/jnnp.2008.165035

Cited by 93 publications

(101 citation statements)

References 37 publications

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“…Such white and grey matter alterations do not seem to be depictable by means of transcranial sonography. On the other hand, clinical symptoms and signs seem to indicate preferential involvement of distinct regions, since attention deficits, daytime sleepiness, depression and restless legs are common features in DM1 and DM2 [12,13,32]. With regard to the correlation of brain morphological alterations to these CNS syndromes, MRI studies revealed inconsistent findings [1][2][3].…”

Section: Discussionmentioning

confidence: 85%

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

et al. 2014

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Myotonic dystrophies (DMs) are clinically similar but distinct multisystemic diseases related to different repeat expansion mutations. CNS involvement is one important aspect of both, myotonic dystrophy type 1 and type 2 (DM1, DM2). Transcran ial sonography (TCS) has become a reliable diagnostic tool in the evaluation of several CNS disorders. The aim of this study was to evaluate TCS-findings in DM-patients in correlation with their clinical status. Thirty-one DM-patients (DM1 = 17; DM2 = 14) were examined clinically and sonographically by independent physicians. Echogenicities of basal ganglia and mesencephalic regions were assessed according to the examination protocol for extrapyramidal disorders using a Toshiba Aplio(®) XG ultrasound system. TCS abnormalities were correlated to clinical findings and secondly compared to 31 controls. Ventricle diameters were additionally compared to 3T-MRI volumetry. Nine patients (29 %) showed hyperechogenicity of substantia nigra. Mesencephalic raphe was hypoechogenic in nine (29 %) DM-patients and was more frequently in DM1 patients (p = 0.021). Width of third ventricle was significantly larger in the patient group (p = 0.021) and correlated with MRI-based volumetry (R (2) = 0.756). Pathological raphe signal was observed mainly in patients suffering from daytime sleepiness (sensitivity = 42.1 %, specificity = 88.9 %, p = 0,044), while alterations did not correlate with symptoms of depression. As a novel finding, a relation between mesencephalic raphe echogenicity and excessive daytime sleepiness could be identified in our DM-patients. An alteration of serotonergic raphe structures might be involved in the pathogenesis of hypersomnia in DM. TCS allows for measurement of third ventricle enlargement as a feasible bedside test.

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Section: Discussionmentioning

confidence: 85%

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

et al. 2014

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“…Uncommonly, DM1 patients develop overt RF whilst still ambulant, as the case for 3 patients (who had dyspnoea at rest) in one series [49]. Hypersomnolence is extremely common in DM1, affecting 69.8 % of patients in one recent series [50]; in some cases hypercapnia or sleep apnoea may contribute, but most evidence favours a neurological origin as the main cause in DM1 [51][52][53]. Sleep disorders are increasingly recognised in DM1 [51,54].…”

Section: Inherited Muscle Diseasesmentioning

confidence: 96%

“…Sleep disorders are increasingly recognised in DM1 [51,54]. Obstructive sleep apnoea, presumed due to weakness and hypotonia of upper airway muscles, is frequently found [50], particularly amongst those who are overweight and even without hypersomnolence [55]. Treatment for patients with symptomatic hypercapnia may include nocturnal non-invasive ventilation (NIV), although patients with DM1 tend to adapt less well to this form of therapy than those with respiratory failure due to other neuromuscular conditions [56].…”

Section: Inherited Muscle Diseasesmentioning

confidence: 99%

Diagnosis of muscle diseases presenting with early respiratory failure

et al. 2014

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Here we describe a clinical approach and differential diagnosis for chronic muscle diseases which include early respiratory failure as a prominent feature in their presentation (i.e. respiratory failure whilst still ambulant). These patients typically present to neurology or respiratory medicine out-patient clinics and a distinct differential diagnosis of neuromuscular aetiologies should be considered. Amyotrophic lateral sclerosis and myasthenia gravis are the important non-muscle diseases to consider, but once these have been excluded there remains a challenging differential diagnosis of muscle conditions, which will be the focus of this review. The key points in the diagnosis of these disorders are being aware of relevant symptoms, which are initially caused by nocturnal hypoventilation or diaphragmatic weakness; and identifying other features which direct further investigation. Important muscle diseases to identify, because their diagnosis has disease-specific management implications, include adult-onset Pompe disease, inflammatory myopathy, and sporadic adult-onset nemaline myopathy. Cases which are due to metabolic myopathy or muscular dystrophy are important to diagnose because of their implications for genetic counselling. Myopathy from sarcoidosis and colchicine each has a single reported case with this presentation, but should be considered because they are treatable. Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to TTN mutations), the FHL1-related syndromes, and myofibrillar myopathy due to BAG3 mutation. Recently described syndromes include oculopharyngodistal muscular dystrophy that awaits genetic characterisation.

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“…Respiratory muscle involvement is common, and respiratory failure, either from the primary muscle process or from cardiopulmonary involvement, is a significant contributor to patient mortality (Machuca-Tzili L et al, 2005). A less well-defined but important disease feature is its effect on the Central nervous system (CNS) and cognition, which can be manifested by psychological dysfunction, mental retardation, excessive diurnal sleepiness, and neuropathological abnormalities (Rubinsztein et al, 1998;Laberge et al, 2009). Recent work has demonstrated global deficits with neuropsychological testing, as well as radiographic changes in the brains of affected individuals, including increased white matter lesion burden, decreased gray matter mass (especially in hippocampal and thalamic regions), and hypometabolism in frontal lobes (Di Constanzo et al, 2002a, 2008bOno et al, 2001).…”

Section: Multisystemic Symptomatologymentioning

confidence: 99%