Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

Maartje G. Huijbers; Erik H. Niks; Rinse Klooster; Marianne de Visser; Jan B. Kuks; Jan H. Veldink; Pim Klarenbeek; Philip Van Damme; Marc H. de Baets; Silvere M. van der Maarel; Leonard H. van den Berg; Jan J. Verschuuren

doi:10.1016/j.nmd.2016.04.004

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

Maartje G. Huijbers^*, Erik H. Niks, Rinse Klooster, Marianne de Visser, Jan B. Kuks, Jan H. Veldink, Pim Klarenbeek, Philip Van Damme, Marc H. de Baets, Silvere M. van der Maarel, Leonard H. van den Berg, Jan J. Verschuuren

^*Corresponding author for this work

MHeNs - Neuroscience

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	350-353
Journal	Neuromuscular Disorders
Volume	26
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2016.04.004
Publication status	Published - Jun 2016

Keywords

Amyotrophic lateral sclerosis
Myasthenia gravis
MuSK
Neuromuscular junction
IgG4

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10.1016/j.nmd.2016.04.004

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Huijbers, M. G., Niks, E. H., Klooster, R., de Visser, M., Kuks, J. B., Veldink, J. H., Klarenbeek, P., Van Damme, P., de Baets, M. H., van der Maarel, S. M., van den Berg, L. H., & Verschuuren, J. J. (2016). Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis. Neuromuscular Disorders, 26(6), 350-353. https://doi.org/10.1016/j.nmd.2016.04.004

@article{79116ee65621403389749bbfe543e657,

title = "Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis",

abstract = "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. ",

keywords = "Amyotrophic lateral sclerosis, Myasthenia gravis, MuSK, Neuromuscular junction, IgG4",

author = "Huijbers, {Maartje G.} and Niks, {Erik H.} and Rinse Klooster and {de Visser}, Marianne and Kuks, {Jan B.} and Veldink, {Jan H.} and Pim Klarenbeek and {Van Damme}, Philip and {de Baets}, {Marc H.} and {van der Maarel}, {Silvere M.} and {van den Berg}, {Leonard H.} and Verschuuren, {Jan J.}",

year = "2016",

month = jun,

doi = "10.1016/j.nmd.2016.04.004",

language = "English",

volume = "26",

pages = "350--353",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Science",

number = "6",

}

Huijbers, MG, Niks, EH, Klooster, R, de Visser, M, Kuks, JB, Veldink, JH, Klarenbeek, P, Van Damme, P, de Baets, MH, van der Maarel, SM, van den Berg, LH & Verschuuren, JJ 2016, 'Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis', Neuromuscular Disorders, vol. 26, no. 6, pp. 350-353. https://doi.org/10.1016/j.nmd.2016.04.004

TY - JOUR

T1 - Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

AU - Huijbers, Maartje G.

AU - Niks, Erik H.

AU - Klooster, Rinse

AU - de Visser, Marianne

AU - Kuks, Jan B.

AU - Veldink, Jan H.

AU - Klarenbeek, Pim

AU - Van Damme, Philip

AU - de Baets, Marc H.

AU - van der Maarel, Silvere M.

AU - van den Berg, Leonard H.

AU - Verschuuren, Jan J.

PY - 2016/6

Y1 - 2016/6

N2 - 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.

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.

KW - Amyotrophic lateral sclerosis

KW - Myasthenia gravis

KW - MuSK

KW - Neuromuscular junction

KW - IgG4

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DO - 10.1016/j.nmd.2016.04.004

M3 - Article

SN - 0960-8966

VL - 26

SP - 350

EP - 353

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

Abstract

Keywords

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