Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

Carlier, Robert‐Yves; Laforêt, Pascal; Wary, C.; Mompoint, D.; Laloui, K.; Pellegrini, N.; Annane, Djillali; Carlier, Pierre; David, Olivier

doi:10.1016/j.nmd.2011.06.748

Cited by 141 publications

(124 citation statements)

References 39 publications

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“…Macroglossia appears to be a common finding, possibly predisposing to upper airway obstruction. 4,25,26 In our study, OSA was initially present in 8 of 22 patients, which by far exceeds its prevalence in the normal population. 27 Whereas it seems controversial whether isolated OSA in patients with LOPD is adequately treated with CPAP, bilevel ventilation should be started in any patient with signs or symptoms of respiratory muscle weakness, and concomitant OSA necessitates careful titration of pressure settings.…”

Section: Discussionmentioning

confidence: 50%

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Boentert

Dräger

Glatz

et al. 2016

Journal of Clinical Sleep Medicine

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Study Objectives: In neuromuscular disease, non-invasive ventilation (NIV) is indicated if sleep-disordered breathing (SDB) or significant respiratory muscle weakness (RMW) is present. We investigated immediate and long-term effects of NIV on sleep and nocturnal ventilation in patients with late-onset Pompe disease (LOPD). Methods: Polysomnography and transcutaneous capnometry were performed in 22 adult patients. If indicated, NIV was initiated the subsequent night and follow-up sleep studies were scheduled. Sleep quality and health-related quality of life (HRQoL) were self-assessed using standard questionnaires. Results: Fourteen patients received enzyme replacement therapy (ERT), five patients were treatment-naïve, and three individuals had previously stopped ERT. Fifteen patients reported symptoms of SDB, all showing abnormal sleep studies. Two patients had obstructive sleep apnea (OSA), three patients showed both OSA and nocturnal hypercapnia, four individuals had nocturnal hypercapnia, and two patients had both OSA and daytime hypercapnia. Four patients showed normal apnea-hypopnea index and CO 2 measures but nocturnal tachypnea, orthopnea, and significant RMW were present. Supine forced vital capacity (FVC) and positional drop of FVC were independent predictors of SDB. In patients with SDB, HRQoL was significantly reduced. NIV was initiated in 15 individuals and led to significant improvement of ventilation and oxygenation in the first night of treatment. Follow-up sleep studies revealed stable normoxia and normocapnia without deterioration of sleep outcomes for up to 40 months. Conclusions: In LOPD, SDB is common and comprises both hypoventilation and OSA. NIV significantly improves respiration already in the first night of treatment. NIV warrants nocturnal long-term normoventilation without deterioration of sleep quality. Keywords: noninvasive ventilation, polysomnography, Pompe disease, respiratory muscle weakness, sleep-disordered breathing Citation: Boentert M, Dräger B, Glatz C, Young P. Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease. J Clin Sleep Med 2016;12(12):1623-1632. I NTRO DUCTI O NPompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the α-1,4-glucosidase (GAA) enzyme. Glycogen accumulation results in lysosomal dysfunction, autophagy, and progressive tissue damage.1 Early infantile-onset Pompe disease is characterized by quadriplegia and fatal hypertrophic cardiomyopathy if enzyme replacement therapy (ERT) is not available. The term late-onset Pompe disease (LOPD) comprises subtypes with late-infantile, childhood, juvenile, or adult disease manifestation. LOPD lacks major cardiac involvement and is characterized by progressive myopathy of the limb-girdle muscles, the trunk muscles, and the diaphragm.2 Respiratory muscle weakness manifests as nocturnal hypoventilation first, eventually leading to sleep disruption, morning headache, fatigue, and excessive daytime sleepiness.3 In addition, patients...

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Section: Discussionmentioning

confidence: 50%

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Boentert

Dräger

Glatz

et al. 2016

Journal of Clinical Sleep Medicine

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“…Для БППН характерны дистрофические изменения мышц, причем это каса-ется вовлечения паравертебральной мускулатуры уже на ранних стадиях болезни [10,11]. Вовлечение в па-тологический процесс параспинальных мышц с раз-витием слабости, а также остеопороз, как следствие основного процесса у пациентов с гликогенозом 2-го типа, часто сопровождаются патологическими пере-ломами тел позвонков [12].…”

Section: нервно-мышечные б о л е з н и Neuromuscular Diseasesunclassified

Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan

Кузина¹,

Кайшибаева²

2018

Neuromuscular Diseases

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“…9). Still only few studies and review articles deal with the potential role of WB MRI in evaluating degenerative myopathies (Schmidt et al 2007(Schmidt et al , 2008Kesper et al 2009;Kornblum et al 2006;Carlier et al 2011;Lenk et al 2004). It would go beyond the scope of this book chapter to discuss the value of neuromuscular WB MRI for all different classes of degenerative myopathies.…”

Section: Degenerative Myopathies/muscle Dystrophiesmentioning

confidence: 99%

“…WB MRI has the potential to characterize distinct subtypes of myopathies and enable a more focused genetic testing (Fischer et al 2005;Carlier et al 2011). Muscle biopsy has a high rate of false-negative results (10-25 %).…”

mentioning

confidence: 99%

Whole-Body MRI for Evaluation of the Entire Muscular System

Schramm¹,

Weckbach

Eustace

et al. 2013

Magnetic Resonance Imaging of the Skeletal Musculature

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Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

Cited by 141 publications

References 39 publications

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan

Whole-Body MRI for Evaluation of the Entire Muscular System

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