Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease

Neurology. 2009 May 5;72(18):e86-90. doi: 10.1212/WNL.0b013e3181a411b8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia Diseases / diagnostic imaging
  • Basal Ganglia Diseases / genetics
  • Basal Ganglia Diseases / physiopathology*
  • Blepharoptosis / etiology
  • Blepharoptosis / metabolism
  • Blepharoptosis / physiopathology
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics
  • Deglutition Disorders / etiology
  • Deglutition Disorders / metabolism
  • Deglutition Disorders / physiopathology
  • Diagnosis, Differential
  • Dopamine / metabolism
  • Dopamine Plasma Membrane Transport Proteins / deficiency
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Inheritance Patterns / genetics
  • Middle Aged
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / metabolism
  • Muscle Weakness / etiology
  • Muscle Weakness / metabolism
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Ocular Motility Disorders / etiology
  • Ocular Motility Disorders / metabolism
  • Ocular Motility Disorders / physiopathology
  • Putamen / diagnostic imaging
  • Putamen / metabolism
  • Putamen / physiopathology
  • Radionuclide Imaging
  • Restless Legs Syndrome / diagnosis*
  • Restless Legs Syndrome / etiology
  • Restless Legs Syndrome / metabolism
  • Vision, Low / diagnosis*
  • Vision, Low / etiology
  • Vision, Low / metabolism

Substances

  • Dopamine Plasma Membrane Transport Proteins
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human
  • Dopamine