Sleep-disordered breathing and respiratory failure in acid maltase deficiency

Title

Sleep-disordered breathing and respiratory failure in acid maltase deficiency

Creator

Mellies U; Ragette R; Schwake C; et al

Publisher

Neurology

Date

2001

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

1290-1295

Issue

7

Volume

57

Citation

Mellies U; Ragette R; Schwake C; et al, “Sleep-disordered breathing and respiratory failure in acid maltase deficiency,” Pediatric Palliative Care Library, accessed May 20, 2022, https://pedpalascnetlibrary.omeka.net/items/show/11797.

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