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Anesthesia and spinal muscle atrophy.

Islander, Gunilla LU (2013) In Paediatric Anaesthesia 23(9). p.804-816
Abstract
Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatal death to progressive symmetrical muscle weakness first appearing in adulthood. The disease is produced by degeneration of spinal motor neurons and can be described in three or more categories: SMA I with onset of symptoms before 6 months of age; SMAII with onset between 6 and 18 months and SMA III, which presents later in childhood. Genetics: The disease is in more than 95% of cases caused by a homozygous deletion in survival motor neuron gene 1 (SMN1). Pathophysiology: The loss of full-length functioning SMN protein leads to a degeneration of anterior... (More)
Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatal death to progressive symmetrical muscle weakness first appearing in adulthood. The disease is produced by degeneration of spinal motor neurons and can be described in three or more categories: SMA I with onset of symptoms before 6 months of age; SMAII with onset between 6 and 18 months and SMA III, which presents later in childhood. Genetics: The disease is in more than 95% of cases caused by a homozygous deletion in survival motor neuron gene 1 (SMN1). Pathophysiology: The loss of full-length functioning SMN protein leads to a degeneration of anterior spinal motor neurons which causes muscle weakness. Anesthetic risks: Airway: Tracheal intubation can be difficult. Respiration: Infants with SMA I almost always need postoperative respiratory support. Patients with SMA II sometimes need support, while SMA III patients seldom need support. Circulation: Circulatory problems during anesthesia are rare. Anesthetic drugs: Neuromuscular blockers: Patients with SMA may display increased sensitivity to and prolonged effect of nondepolarizing neuromuscular blockers. Intubation without muscle relaxation should be considered. Succinylcholine should be avoided. Opioids: These should be titrated carefully. Anesthetic techniques: All types of anesthetic technique have been used. Although none is absolutely contraindicated, none is perfect: anesthesia must be individualized. Conclusion: The perioperative risks can be considerable and are mainly related to the respiratory system, from respiratory failure to difficult/impossible intubation. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Paediatric Anaesthesia
volume
23
issue
9
pages
804 - 816
publisher
Wiley-Blackwell
external identifiers
  • wos:000322891400006
  • pmid:23601145
  • scopus:84881554577
ISSN
1460-9592
DOI
10.1111/pan.12159
language
English
LU publication?
yes
id
7302cb0e-dd38-4bea-9ac3-ed1d52523ac1 (old id 3733567)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23601145?dopt=Abstract
date added to LUP
2013-05-04 19:51:29
date last changed
2019-09-17 01:15:34
@article{7302cb0e-dd38-4bea-9ac3-ed1d52523ac1,
  abstract     = {Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatal death to progressive symmetrical muscle weakness first appearing in adulthood. The disease is produced by degeneration of spinal motor neurons and can be described in three or more categories: SMA I with onset of symptoms before 6 months of age; SMAII with onset between 6 and 18 months and SMA III, which presents later in childhood. Genetics: The disease is in more than 95% of cases caused by a homozygous deletion in survival motor neuron gene 1 (SMN1). Pathophysiology: The loss of full-length functioning SMN protein leads to a degeneration of anterior spinal motor neurons which causes muscle weakness. Anesthetic risks: Airway: Tracheal intubation can be difficult. Respiration: Infants with SMA I almost always need postoperative respiratory support. Patients with SMA II sometimes need support, while SMA III patients seldom need support. Circulation: Circulatory problems during anesthesia are rare. Anesthetic drugs: Neuromuscular blockers: Patients with SMA may display increased sensitivity to and prolonged effect of nondepolarizing neuromuscular blockers. Intubation without muscle relaxation should be considered. Succinylcholine should be avoided. Opioids: These should be titrated carefully. Anesthetic techniques: All types of anesthetic technique have been used. Although none is absolutely contraindicated, none is perfect: anesthesia must be individualized. Conclusion: The perioperative risks can be considerable and are mainly related to the respiratory system, from respiratory failure to difficult/impossible intubation.},
  author       = {Islander, Gunilla},
  issn         = {1460-9592},
  language     = {eng},
  number       = {9},
  pages        = {804--816},
  publisher    = {Wiley-Blackwell},
  series       = {Paediatric Anaesthesia},
  title        = {Anesthesia and spinal muscle atrophy.},
  url          = {http://dx.doi.org/10.1111/pan.12159},
  volume       = {23},
  year         = {2013},
}