PMID- 22854280
OWN - NLM
STAT- MEDLINE
DCOM- 20131017
LR  - 20131121
IS  - 1872-6968 (Electronic)
IS  - 0303-8467 (Linking)
VI  - 115
IP  - 5
DP  - 2013 May
TI  - Can a rare form of myasthenia gravis shed additional light on disease mechanisms?
PG  - 562-6
LID - S0303-8467(12)00363-0 [pii]
LID - 10.1016/j.clineuro.2012.06.038 [doi]
AB  - A healthy 43-year-old physician developed gradually progressive and fluctuating 
      fatigable muscle weakness involving ocular, limb, bulbar and respiratory muscles, 
      with episodic acute respiratory failure, eventually necessitating intermittent 
      non-invasive respiratory support (NIV). A mild short episode occurred 15 years 
      earlier with complete resolution. Electromyography (EMG) studies and 
      acetylcholine receptor (AchR) antibodies were repeatedly non-diagnostic. The 
      diagnosis of myasthenia gravis (MG) was finally confirmed by direct measurement 
      of diaphragmatic strength using magnetic nerve stimulation providing clear cut 
      evidence of significant fatigable weakness and the demonstration of 
      muscle-specific kinase (MuSK) serum antibodies using a novel cell-based assay. 
      The cluster of several atypical features and lack of response to commonly used 
      treatment modalities prompted a search for a unifying mechanism and better 
      understanding of the underlying pathophysiology. Review of the literature 
      suggested a possible impairment of excitation-contraction coupling with 
      malfunction of a signaling protein downstream to the AchR, without an 
      accompanying impairment of electrical transmission. This postulated mechanism, 
      resulting in a disturbance of calcium signaling, explained the unusual features 
      in this patient's illness and led to treatment with salbutamol and ephedrine and 
      to significant symptomatic improvement not achieved by any other treatment.
CI  - Copyright (c) 2012 Elsevier B.V. All rights reserved.
FAU - Haran, Michal
AU  - Haran M
AD  - Hematology Institute, Kaplan Medical Center, Rehovot, Hebrew University Hadassah 
      Medical School, Jerusalem, Israel.
FAU - Schattner, Ami
AU  - Schattner A
FAU - Mate, Andras
AU  - Mate A
FAU - Starobin, Danield
AU  - Starobin D
FAU - Haran, Gilad
AU  - Haran G
FAU - Shtalrid, Mordechai
AU  - Shtalrid M
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120731
PL  - Netherlands
TA  - Clin Neurol Neurosurg
JT  - Clinical neurology and neurosurgery
JID - 7502039
RN  - 0 (Anti-Asthmatic Agents)
RN  - 0 (Autoantibodies)
RN  - 0 (Receptors, Cholinergic)
RN  - 142M471B3J (Carbon Dioxide)
RN  - EC 2.7.10.1 (MUSK protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - GN83C131XS (Ephedrine)
RN  - QF8SVZ843E (Albuterol)
SB  - IM
MH  - Adult
MH  - Albuterol/therapeutic use
MH  - Anti-Asthmatic Agents/therapeutic use
MH  - Asthma/complications/drug therapy
MH  - Autoantibodies/analysis
MH  - Calcium Signaling/drug effects
MH  - Carbon Dioxide/metabolism
MH  - Diaphragm/physiopathology
MH  - Dyspnea/etiology
MH  - Electric Stimulation
MH  - Electromyography
MH  - Ephedrine/therapeutic use
MH  - Humans
MH  - Male
MH  - Muscle Weakness/etiology
MH  - Myasthenia Gravis/diagnosis/*pathology/therapy
MH  - Plasma Exchange
MH  - Receptor Protein-Tyrosine Kinases/metabolism
MH  - Receptors, Cholinergic/immunology/metabolism
MH  - Speech Disorders/etiology
EDAT- 2012/08/03 06:00
MHDA- 2013/10/18 06:00
CRDT- 2012/08/03 06:00
PHST- 2011/08/10 00:00 [received]
PHST- 2012/06/26 00:00 [revised]
PHST- 2012/06/30 00:00 [accepted]
PHST- 2012/08/03 06:00 [entrez]
PHST- 2012/08/03 06:00 [pubmed]
PHST- 2013/10/18 06:00 [medline]
AID - S0303-8467(12)00363-0 [pii]
AID - 10.1016/j.clineuro.2012.06.038 [doi]
PST - ppublish
SO  - Clin Neurol Neurosurg. 2013 May;115(5):562-6. doi: 
      10.1016/j.clineuro.2012.06.038. Epub 2012 Jul 31.