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 journalArticle

7 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1129-1132
Number of pages4
JournalMuscle and Nerve
Volume23
Issue number7
DOIs
StatePublished - Jul 2000

Fingerprint

Congenital Myasthenic Syndromes
Lung Volume Measurements
Noninvasive Ventilation
Hypoventilation
Acetylcholinesterase
Sleep
Gases
Lung
Growth
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Congenital myasthenic syndrome with sleep hypoventilation. / Iannaccone, S. T.; Mills, J. K.; Harris, K. M.; Herman, J. H.; Schochet, P.; Luckett, P.

In: Muscle and Nerve, Vol. 23, No. 7, 07.2000, p. 1129-1132.

Research output: Contribution to journalArticle

Iannaccone, S. T. ; Mills, J. K. ; Harris, K. M. ; Herman, J. H. ; Schochet, P. ; Luckett, P. / Congenital myasthenic syndrome with sleep hypoventilation. In: Muscle and Nerve. 2000 ; Vol. 23, No. 7. pp. 1129-1132.
@article{ca1bcb45a3284d58b035b8ef1c355e01,
title = "Congenital myasthenic syndrome with sleep hypoventilation",
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.",
keywords = "Acetylcholinesterase deficiency, Congenital myasthenic syn- drome, Noninvasive ventilation, Polysomnogram, Restrictive lung disease",
author = "Iannaccone, {S. T.} and Mills, {J. K.} and Harris, {K. M.} and Herman, {J. H.} and P. Schochet and P. Luckett",
year = "2000",
month = "7",
doi = "10.1002/1097-4598(200007)23:7<1129::AID-MUS19>3.0.CO;2-M",
language = "English (US)",
volume = "23",
pages = "1129--1132",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "7",

}

TY - JOUR

T1 - Congenital myasthenic syndrome with sleep hypoventilation

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

Y1 - 2000/7

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.

AB - 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.

KW - Acetylcholinesterase deficiency

KW - Congenital myasthenic syn- drome

KW - Noninvasive ventilation

KW - Polysomnogram

KW - Restrictive lung disease

UR - http://www.scopus.com/inward/record.url?scp=0033945502&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033945502&partnerID=8YFLogxK

U2 - 10.1002/1097-4598(200007)23:7<1129::AID-MUS19>3.0.CO;2-M

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

M3 - Article

C2 - 10883011

AN - SCOPUS:0033945502

VL - 23

SP - 1129

EP - 1132

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 7

ER -