• jerks
  • The myoclonic jerks occur in the muscles of the arms and legs closest to the torso, and are triggered due to a variety of common external stimuli. (wikipedia.org)
  • The primary diagnosis for JME is a good knowledge of patient history and the neurologist's familiarity with the myoclonic jerks, which are the hallmark of the syndrome. (wikipedia.org)
  • syndrome
  • M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome (LS) and progressive dystonia. (ugent.be)
  • C levels (36-52% in leucocytes, 97-99% in muscle) were found in patients with progressive myoclonic epilepsy (PME) and dystonia or progressive hypokinetic-rigid syndrome. (ugent.be)
  • severe
  • It is one of the most severe forms of canine epilepsy leading to neurodegeneration and, frequently euthanasia within a few years of diagnosis. (springer.com)
  • Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. (nih.gov)
  • type
  • 2. a single episode of epilepsy, often named for the type it represents. (thefreedictionary.com)
  • In most cases, a misdiagnosis is not detrimental to the patient, because many of the same medications are used to treat both ULD and whatever type of epilepsy the patient has been misdiagnosed with. (wikipedia.org)
  • known
  • The mechanism currently supported by research is very similar to another theory of epilepsy progression known as kindling. (wikipedia.org)