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Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?

Magdalena KoszewiczJakub UbyszEdyta DziadkowiakMalgorzata WieczorekSlawomir Budrewicz
Published in: Orphanet journal of rare diseases (2024)
A high SNAP amplitude suggests sensory fibre hyperactivity, which may be based on overactivation of metabolic pathways as an adaptive mechanism in response to SMN protein deficiency with additionally coexisting small C- and A-delta fibre damage. SMA patients seem to have a concomitant, mild demyelinating process present at the early SMA stage.
Keyphrases
  • oxidative stress
  • end stage renal disease
  • newly diagnosed
  • chronic kidney disease
  • small molecule
  • protein protein
  • functional connectivity