PMID- 20547629
OWN - NLM
STAT- MEDLINE
DCOM- 20150422
LR  - 20220129
IS  - 1468-330X (Electronic)
IS  - 0022-3050 (Linking)
VI  - 81
IP  - 8
DP  - 2010 Aug
TI  - Myasthenia and related disorders of the neuromuscular junction.
PG  - 850-7
LID - 10.1136/jnnp.2008.169367 [doi]
AB  - Our understanding of transmission at the neuromuscular junction has increased 
      greatly in recent years. We now recognise a wide variety of autoimmune and 
      genetic diseases that affect this specialised synapse, causing muscle weakness 
      and fatigue. These disorders greatly affect quality of life and rarely can be 
      fatal. Myasthenia gravis is the most common disorder and is most commonly caused 
      by autoantibodies targeting postsynaptic acetylcholine receptors. Antibodies to 
      muscle-specific kinase (MuSK) are detected in a variable proportion of the 
      remainder. Treatment is symptomatic and immunomodulatory. Lambert-Eaton 
      myasthenic syndrome is caused by antibodies to presynaptic calcium channels, and 
      approximately 50% of cases are paraneoplastic, most often related to small cell 
      carcinoma of the lung. Botulism is an acquired disorder caused by neurotoxins 
      produced by Clostridium botulinum, impairing acetylcholine release into the 
      synaptic cleft. In addition, several rare congenital myasthenic syndromes have 
      been identified, caused by inherited defects in presynaptic, synaptic basal 
      lamina and postsynaptic proteins necessary for neuromuscular transmission. This 
      review focuses on recent advances in the diagnosis and treatment of these 
      disorders.
FAU - Spillane, Jennifer
AU  - Spillane J
AD  - UCL Institute of Neurology, Queen Square, London, UK.
FAU - Beeson, David J
AU  - Beeson DJ
FAU - Kullmann, Dimitri M
AU  - Kullmann DM
LA  - eng
GR  - 084655/WT_/Wellcome Trust/United Kingdom
GR  - G0701521/MRC_/Medical Research Council/United Kingdom
GR  - G0801316/MRC_/Medical Research Council/United Kingdom
GR  - G116/147/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20100614
PL  - England
TA  - J Neurol Neurosurg Psychiatry
JT  - Journal of neurology, neurosurgery, and psychiatry
JID - 2985191R
RN  - 0 (Immunosuppressive Agents)
RN  - 0 (Receptors, Cholinergic)
RN  - EC 2.7.10.1 (MUSK protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Botulism/pathology/therapy
MH  - Humans
MH  - Immunosuppressive Agents/therapeutic use
MH  - Lambert-Eaton Myasthenic Syndrome/pathology/therapy
MH  - Myasthenia Gravis/diagnosis/epidemiology/immunology/*pathology/therapy
MH  - Myasthenic Syndromes, Congenital/pathology/therapy
MH  - Neural Conduction/physiology
MH  - Neuromuscular Junction/*pathology
MH  - Prognosis
MH  - Receptor Protein-Tyrosine Kinases/immunology/metabolism
MH  - Receptors, Cholinergic/immunology/metabolism
MH  - Synaptic Transmission/physiology
EDAT- 2010/06/16 06:00
MHDA- 2015/04/23 06:00
CRDT- 2010/06/16 06:00
PHST- 2010/06/16 06:00 [entrez]
PHST- 2010/06/16 06:00 [pubmed]
PHST- 2015/04/23 06:00 [medline]
AID - jnnp.2008.169367 [pii]
AID - 10.1136/jnnp.2008.169367 [doi]
PST - ppublish
SO  - J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):850-7. doi: 
      10.1136/jnnp.2008.169367. Epub 2010 Jun 14.