TY - JOUR
T1 - A patient with autoimmune limb-girdle myasthenia, and a brief review of this treatable condition.
AU - Vecchio, Domizia
AU - Varrasi, Claudia
AU - Comi, Cristoforo
AU - Ripellino, Paolo
AU - Cantello, Roberto
N1 - Publisher Copyright:
© 2017 Elsevier B.V.
PY - 2017/7/1
Y1 - 2017/7/1
N2 - Limb-girdle myasthenia gravis (LGM) is an uncommon clinical picture related to an antibody-mediated blockage of the neuromuscular junction. We describe a 44-year old man who presented with a proximal limbs’ weakness that resembled a myopathic disorder. The repetitive nerve stimulation at 3 Hz showing a decremental response suggested myasthenia, that was confirmed by the presence of an increased titer of anti-acetylcholine receptor antibodies (AChRAbs), and of hyperplastic foci at thymus histology. Symptomatic treatment with pyridostigmine was not effective, whereas the patient improved adding Azathioprine. In conclusion, a myopathic-like clinical picture in an adult could be caused by LMG. Thymus pathology, or (rarely) increased AChRAbs could support the diagnosis of LGM.
AB - Limb-girdle myasthenia gravis (LGM) is an uncommon clinical picture related to an antibody-mediated blockage of the neuromuscular junction. We describe a 44-year old man who presented with a proximal limbs’ weakness that resembled a myopathic disorder. The repetitive nerve stimulation at 3 Hz showing a decremental response suggested myasthenia, that was confirmed by the presence of an increased titer of anti-acetylcholine receptor antibodies (AChRAbs), and of hyperplastic foci at thymus histology. Symptomatic treatment with pyridostigmine was not effective, whereas the patient improved adding Azathioprine. In conclusion, a myopathic-like clinical picture in an adult could be caused by LMG. Thymus pathology, or (rarely) increased AChRAbs could support the diagnosis of LGM.
KW - Acquired neuromuscular junction disorder
KW - Myopathic-like presentation
UR - http://www.scopus.com/inward/record.url?scp=85018304948&partnerID=8YFLogxK
U2 - 10.1016/j.clineuro.2017.04.016
DO - 10.1016/j.clineuro.2017.04.016
M3 - Review article
SN - 0303-8467
VL - 158
SP - 53
EP - 55
JO - Clinical Neurology and Neurosurgery
JF - Clinical Neurology and Neurosurgery
ER -