Mitochondrial pseudomyasthenia.
The classic ocular motor presentation of mitochondrial disorders is chronic, symmetric, and diffuse weakness. We describe a man with 25 years of asymmetric ptosis, ophthalmoparesis, and facial weakness that partially responded to steroid therapy. Serologic and electrophysiological investigations for myasthenia gravis were negative, but muscle biopsy confirmed a mitochondrial myopathy. This case illustrates the potential of mitochondrial ophthalmoparesis to mimic the features of ocular myasthenia.
Barton
Jason J S
JJ
Departments of Medicine (Neurology), University of British Columbia, Vancouver, British Columbia, Canada. jasonbarton@shaw.ca
Maguire
John
J
Mezei
Michelle
M
Hurwitz
Trevor
T
Briemberg
Hannah R
HR
D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis*; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009157:Myasthenia Gravis / Q000150:complications / Q000175:diagnosis*