Sleep-disordered breathing and respiratory failure in acid maltase deficiency

Mellies, Uwe; Ragette, R.; Schwake, C.; Baethmann, Martina; Voït, Thomas; Teschler, Helmut

doi:10.1212/wnl.57.7.1290

Cited by 158 publications

(132 citation statements)

References 21 publications

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“…Approximately 60% of patients with late-onset Pompe disease have a mild reduction in vital capacity (<80% predicted) and 30–40% have moderate reduction (<60% predicted) 35,46,47. Although the pattern of muscle weakness is variable, a rough correlation has been observed between measures of pulmonary function and proximal muscle weakness, particularly in the lower extremities 47.…”

Section: Pulmonarymentioning

confidence: 99%

“…Although the pattern of muscle weakness is variable, a rough correlation has been observed between measures of pulmonary function and proximal muscle weakness, particularly in the lower extremities 47. Diaphragmatic involvement can be an early and prominent finding in Pompe disease and respiratory failure often develops while patients are still ambulatory; it may even be the initial clinical manifestation of the disease 35,46,48–50. Diaphragm weakness may be characterized by a decrease in the vital capacity (VC) while the patient is in the supine versus prone position (a 10% decrease in VC indicates diaphragmatic weakness; a 30% decrease indicating severe weakness) 50.…”

Section: Pulmonarymentioning

confidence: 99%

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Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

476

550

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Section: Pulmonarymentioning

confidence: 99%

Section: Pulmonarymentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

476

550

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“…In addition, our study supports that supine FVC and positional drop of FVC are independent predictors of nocturnal hypoventilation. 5,23,24 To date, little is known about the prevalence of OSA in patients with LOPD. Macroglossia appears to be a common finding, possibly predisposing to upper airway obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…5,6 Predictors of poor respiratory outcome include male sex, disease duration, and overall neurological impairment. 7,8 NIV is indicated if sleep-disordered breathing (SDB), daytime hypercapnia, or clinically significant diaphragmatic weakness is present.…”

mentioning

confidence: 99%

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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“…Accordingly, respiratory failure is a main clinical presentation in the early stages of the disease and the major cause of death in the course of disease [7,8]. Also, sleep may be affected by nocturnal respiratory disturbances resulted in daytime symptoms like morning headache and excessive daytime sleepiness [4,7].…”

Section: Headache: a Presentation Of Pompe Disease; A Case Reportmentioning

confidence: 99%