Reduced brain stem excitability in mitochondrial myopathy: evidence for early detection with blink reflex habituation studies

Muscle Nerve. 1996 Dec;19(12):1586-95. doi: 10.1002/(SICI)1097-4598(199612)19:12<1586::AID-MUS8>3.0.CO;2-6.

Abstract

Blink reflex (BR) was studied in 17 patients with histochemically and genetically confirmed mitochondrial myopathy (MM). Fourteen patients had chronic progressive external ophthalmoplegia (CPEO) associated with a mild to moderate craniosomatic myopathy without any symptoms or signs of central nervous system (CNS) involvement, 2 myoclonic epilepsy with ragged red fibers syndrome, and 1 Kearns-Sayre syndrome. The mean latencies of the early (R1) and late (R2) responses were prolonged (P < 0.01 and P < 0.001, respectively), and the corresponding amplitudes decreased (P < 0.001). Increased habituation of the reflex was clearly observed in 10 out of 14 patients tested (71.4%), 9 of whom presented CPEO. These findings suggest that the brain stem reticular network is in a state of basal inhibition which is presumably due to a subclinical impairment of the cerebral cellular metabolism. Multimodal evoked potentials revealed abnormalities suggestive of CNS involvement in 7 out of 17 patients (41.2%), 4 of whom had CPEO. These observations document the validity of BR in detecting clinically silent brain stem impairment in patients with apparently pure MM and provide important clues for a further understanding of the underlying pathophysiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blinking*
  • Brain Stem / physiopathology*
  • Electromyography
  • Electrophysiology
  • Evoked Potentials, Auditory, Brain Stem
  • Evoked Potentials, Somatosensory
  • Evoked Potentials, Visual
  • Female
  • Habituation, Psychophysiologic*
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / physiopathology*
  • Reference Values