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Text
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URL Address
<a href="http://doi.org/10.1212/wnl.57.7.1290" target="_blank" rel="noreferrer">http://doi.org/10.1212/wnl.57.7.1290</a>
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Title
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Sleep-disordered breathing and respiratory failure in acid maltase deficiency
Publisher
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Neurology
Date
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2001
Subject
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Child; Humans; Adult; Middle Aged; Sensitivity and Specificity; Predictive Value of Tests; adolescent; Preschool; Q3 Literature Search; REM; Sleep; Polysomnography; Diaphragm/physiopathology; Glycogen Storage Disease Type II/complications; Respiratory Insufficiency/diagnosis/etiology/physiopathology; Sleep Apnea Syndromes/diagnosis/etiology/physiopathology; Vital Capacity
Creator
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Mellies U; Ragette R; Schwake C; et al
Description
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BACKGROUND: Sleep-disordered breathing (SDB) and respiratory failure (RF) are complications of acid maltase deficiency (AMD), a rare hereditary myopathy. OBJECTIVE: To define the relationship between lung and respiratory muscle function, to establish incidence and patterns of SDB, and to determine daytime predictors of SDB. METHODS: Sitting and supine lung and respiratory muscle function tests were obtained in 27 subjects with juvenile and adult AMD (aged 39 +/- 19 years) and compared with outcomes of polysomnography. RESULTS: Ventilatory restriction was present in 17/27 subjects. Inspiratory vital capacity (IVC) correlated (p 50 mm Hg) first in REM sleep, then in non-REM sleep (p < 0.005). SDB was predicted by DW (sensitivity 80%, specificity 86%) and nocturnal hypoventilation by IVC < 40% (sensitivity 80%, specificity 93%). Noninvasive ventilation, instituted for daytime respiratory failure or nocturnal hypoventilation, normalized daytime and nocturnal gas exchange (p < 0.005). CONCLUSION: Vital capacity correlates with respiratory muscle function in AMD. Diaphragm weakness is the major cause of SDB and RF. SDB and nocturnal hypoventilation are predictable from daytime function tests.
2001
Identifier
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<a href="http://doi.org/10.1212/wnl.57.7.1290" target="_blank" rel="noreferrer">10.1212/wnl.57.7.1290</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2001
Adolescent
Adult
Backlog
Child
Diaphragm/physiopathology
et al
Glycogen Storage Disease Type II/complications
Humans
Journal Article
Mellies U
Middle Aged
Neurology
Polysomnography
Predictive Value of Tests
Preschool
Q3 Scoping Review Results
Ragette R
REM
Respiratory Insufficiency/diagnosis/etiology/physiopathology
Schwake C
Sensitivity and Specificity
Sleep
Sleep Apnea Syndromes/diagnosis/etiology/physiopathology
Vital Capacity