Congenital myasthenic syndrome with sleep hypoventilation

S. T. Iannaccone; J. K. Mills; K. M. Harris; J. H. Herman; P. Schochet; P. Luckett

doi:10.1002/1097-4598(200007)23:7<1129::AID-MUS19>3.0.CO;2-M

Congenital myasthenic syndrome with sleep hypoventilation

S. T. Iannaccone, J. K. Mills, K. M. Harris, J. H. Herman, P. Schochet, P. Luckett

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. (C) 2000 John Wiley and Sons, Inc.

Original language	English (US)
Pages (from-to)	1129-1132
Number of pages	4
Journal	Muscle and Nerve
Volume	23
Issue number	7
DOIs	https://doi.org/10.1002/1097-4598(200007)23:7<1129::AID-MUS19>3.0.CO;2-M
State	Published - Jul 2000

Keywords

Acetylcholinesterase deficiency
Congenital myasthenic syn- drome
Noninvasive ventilation
Polysomnogram
Restrictive lung disease

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

Access to Document

10.1002/1097-4598(200007)23:7<1129::AID-MUS19>3.0.CO;2-M

Cite this

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abstract = "We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. (C) 2000 John Wiley and Sons, Inc.",

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AU - Iannaccone, S. T.

AU - Mills, J. K.

AU - Harris, K. M.

AU - Herman, J. H.

AU - Schochet, P.

AU - Luckett, P.

PY - 2000/7

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N2 - We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment. (C) 2000 John Wiley and Sons, Inc.

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KW - Acetylcholinesterase deficiency

KW - Congenital myasthenic syn- drome

KW - Noninvasive ventilation

KW - Polysomnogram

KW - Restrictive lung disease

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Congenital myasthenic syndrome with sleep hypoventilation

Abstract

Keywords

ASJC Scopus subject areas

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