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Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.

Eva KlinmanCatherine GoochJoel S PerlmutterAlbert A DavisBaijayanta Maiti
Published in: Neurology. Genetics (2024)
Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.
Keyphrases
  • deep brain stimulation
  • early onset
  • sleep quality
  • single cell
  • depressive symptoms
  • physical activity