TY - JOUR
T1 - Unusual association of amyotrophic lateral sclerosis and myasthenia gravis
T2 - A dysregulation of the adaptive immune system?
AU - del Mar Amador, Maria
AU - Vandenberghe, Nadia
AU - Berhoune, Nawel
AU - Camdessanché, Jean Philippe
AU - Gronier, Sophie
AU - Delmont, Emilien
AU - Desnuelle, Claude
AU - Cintas, Pascal
AU - Pittion, Sophie
AU - Louis, Sarah
AU - Demeret, Sophie
AU - Lenglet, Timothée
AU - Meininger, Vincent
AU - Salachas, François
AU - Pradat, Pierre François
AU - Bruneteau, Gaëlle
PY - 2016/6/1
Y1 - 2016/6/1
N2 - Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions that has been associated with a small increased risk of amyotrophic lateral sclerosis (ALS). Here, we describe a retrospective series of seven cases with a concomitant diagnosis of ALS and myasthenia gravis, collected among the 18 French reference centers for ALS in a twelve year period. After careful review, only six patients strictly met the diagnostic criteria for both ALS and myasthenia gravis. In these patients, limb onset of ALS was reported in five (83%) cases. Localization of myasthenia gravis initial symptoms was ocular in three (50%) cases, generalized in two (33%) and bulbar in one (17%). Median delay between onset of the two conditions was 19 months (6-319 months). Anti-acetylcholine receptor antibodies testing was positive in all cases. All patients were treated with riluzole and one had an associated immune-mediated disease. In the one last ALS case, the final diagnosis was false-positivity for anti-acetylcholine receptor antibodies. The co-occurrence of ALS and myasthenia gravis is rare and requires strict diagnostic criteria. Its demonstration needs thoughtful interpretation of electrophysiological results and exclusion of false positivity for myasthenia gravis antibody testing in some ALS cases. This association may be triggered by a dysfunction of adaptive immunity.
AB - Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions that has been associated with a small increased risk of amyotrophic lateral sclerosis (ALS). Here, we describe a retrospective series of seven cases with a concomitant diagnosis of ALS and myasthenia gravis, collected among the 18 French reference centers for ALS in a twelve year period. After careful review, only six patients strictly met the diagnostic criteria for both ALS and myasthenia gravis. In these patients, limb onset of ALS was reported in five (83%) cases. Localization of myasthenia gravis initial symptoms was ocular in three (50%) cases, generalized in two (33%) and bulbar in one (17%). Median delay between onset of the two conditions was 19 months (6-319 months). Anti-acetylcholine receptor antibodies testing was positive in all cases. All patients were treated with riluzole and one had an associated immune-mediated disease. In the one last ALS case, the final diagnosis was false-positivity for anti-acetylcholine receptor antibodies. The co-occurrence of ALS and myasthenia gravis is rare and requires strict diagnostic criteria. Its demonstration needs thoughtful interpretation of electrophysiological results and exclusion of false positivity for myasthenia gravis antibody testing in some ALS cases. This association may be triggered by a dysfunction of adaptive immunity.
KW - Amyotrophic lateral sclerosis
KW - Immunology
KW - Myasthenia gravis
KW - Neuromuscular transmission
UR - http://www.scopus.com/inward/record.url?scp=84963611944&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2016.03.004
DO - 10.1016/j.nmd.2016.03.004
M3 - Article
C2 - 27102004
AN - SCOPUS:84963611944
SN - 0960-8966
VL - 26
SP - 342
EP - 346
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 6
ER -