PMID- 27133662
OWN - NLM
STAT- MEDLINE
DCOM- 20180123
LR  - 20180131
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Linking)
VI  - 26
IP  - 6
DP  - 2016 Jun
TI  - Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic 
      lateral sclerosis.
PG  - 350-3
LID - S0960-8966(15)30125-5 [pii]
LID - 10.1016/j.nmd.2016.04.004 [doi]
AB  - Muscle-specific kinase (MuSK) myasthenia gravis (MG) is hallmarked by the 
      predominant involvement of bulbar muscles and muscle atrophy. This might mimic 
      amyotrophic lateral sclerosis (ALS) presenting with bulbar weakness. We 
      encountered four cases of MuSK MG patients with an initial misdiagnosis of ALS. 
      We analyzed the clinical data of the four misdiagnosed MuSK MG patients, and 
      investigated the presence of MuSK autoantibodies in a group of 256 Dutch 
      bulbar-onset ALS patients using a recombinant MuSK ELISA and a standard MuSK 
      radioimmunorecipitation assay. Clues for changing the diagnosis were slow 
      progression, clinical improvement, development of diplopia and absence of signs 
      of upper motor neuron involvement. No cases of MuSK MG were identified among a 
      group of 256 bulbar ALS patients diagnosed according to the revised El Escorial 
      criteria. A misdiagnosis of ALS in patients with MuSK MG is rare. We recommend to 
      carefully consider the diagnosis of MuSK MG in patients presenting with bulbar 
      weakness without clear signs of upper motor neuron dysfunction.
CI  - Copyright (c) 2016 Elsevier B.V. All rights reserved.
FAU - Huijbers, Maartje G
AU  - Huijbers MG
AD  - Department of Neurology, Leiden University Medical Center, Leiden, Netherlands; 
      Department of Human Genetics, Leiden University Medical Center, Leiden, 
      Netherlands. Electronic address: m.g.m.huijbers@lumc.nl.
FAU - Niks, Erik H
AU  - Niks EH
AD  - Department of Neurology, Leiden University Medical Center, Leiden, Netherlands.
FAU - Klooster, Rinse
AU  - Klooster R
AD  - Department of Human Genetics, Leiden University Medical Center, Leiden, 
      Netherlands.
FAU - de Visser, Marianne
AU  - de Visser M
AD  - Department of Neurology, Amsterdam Medical Center, Amsterdam, Netherlands.
FAU - Kuks, Jan B
AU  - Kuks JB
AD  - Department of Neurology, University Medical Center Groningen, Groningen, 
      Netherlands.
FAU - Veldink, Jan H
AU  - Veldink JH
AD  - Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University 
      Medical Center Utrecht, Utrecht, Netherlands.
FAU - Klarenbeek, Pim
AU  - Klarenbeek P
AD  - Department of Neurology, Zuyderland Medical Center, Heerlen, Netherlands.
FAU - Van Damme, Philip
AU  - Van Damme P
AD  - Department of Neurosciences, VIB - Vesalius Research Center, Experimental 
      Neurology - Laboratory of Neurobiology, KU Leuven - University of Leuven, Leuven, 
      Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
FAU - de Baets, Marc H
AU  - de Baets MH
AD  - Department of Neurosciences, Maastricht University, Maastricht, Netherlands.
FAU - van der Maarel, Silvere M
AU  - van der Maarel SM
AD  - Department of Human Genetics, Leiden University Medical Center, Leiden, 
      Netherlands.
FAU - van den Berg, Leonard H
AU  - van den Berg LH
AD  - Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University 
      Medical Center Utrecht, Utrecht, Netherlands.
FAU - Verschuuren, Jan J
AU  - Verschuuren JJ
AD  - Department of Neurology, Leiden University Medical Center, Leiden, Netherlands.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20160406
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (Autoantibodies)
RN  - 0 (Biomarkers)
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  - Aged
MH  - Amyotrophic Lateral Sclerosis/diagnosis
MH  - Autoantibodies/*blood
MH  - Biomarkers/blood
MH  - Diagnostic Errors
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myasthenia Gravis/*diagnosis/drug therapy/enzymology/*immunology
MH  - Receptor Protein-Tyrosine Kinases/*immunology
MH  - Receptors, Cholinergic/*immunology
OTO - NOTNLM
OT  - Amyotrophic lateral sclerosis
OT  - IgG4
OT  - MuSK
OT  - Myasthenia gravis
OT  - Neuromuscular junction
EDAT- 2016/05/03 06:00
MHDA- 2018/01/24 06:00
CRDT- 2016/05/03 06:00
PHST- 2015/11/23 00:00 [received]
PHST- 2016/03/29 00:00 [revised]
PHST- 2016/04/05 00:00 [accepted]
PHST- 2016/05/03 06:00 [entrez]
PHST- 2016/05/03 06:00 [pubmed]
PHST- 2018/01/24 06:00 [medline]
AID - S0960-8966(15)30125-5 [pii]
AID - 10.1016/j.nmd.2016.04.004 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2016 Jun;26(6):350-3. doi: 10.1016/j.nmd.2016.04.004. Epub 
      2016 Apr 6.