Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

Michal M. Andelman-Gur, Hirotomo Saitsu, Naomichi Matsumoto, Ronen Spiegel, Keren Yosovich, Dorit Lev, Tally Lerman-Sagie, Lubov Blumkin

Research output: Contribution to journalArticlepeer-review

Abstract

Adenylosuccinate lyase deficiency is a rare autosomal recessive disorder of purine metabolism. The disorder manifests with developmental delay, postnatal microcephaly, hypotonia, involuntary movements, epileptic seizures, ataxia and autistic features. Paroxysmal non-epileptic motor events are not a typical presentation of the disease. We describe an 8-year-old boy who presented with an infantile onset of prolonged episodes of multifocal sustained myoclonic tremor lasting from minutes to days on a background of global developmental delay and gait ataxia. Ictal EEG during these episodes was normal. Ictal surface EMG of the involved upper limb showed a muscular activation pattern consistent with cortical myoclonus. Brain MRI showed mild cerebral atrophy. Whole exome sequencing revealed a novel homozygous variant in the ADSL gene: c.1027G > A; p. Glu343Lys, inherited from each heterozygous parent. There was a marked elevation of urine succinyladenosine, confirming the diagnosis of adenylosuccinate lyase deficiency. In conclusion, myoclonic tremor status expands the spectrum of movement disorders seen in adenylosuccinate lyase deficiency.

Original languageEnglish
Article number104061
JournalEuropean Journal of Medical Genetics
Volume63
Issue number12
DOIs
StatePublished - Dec 2020

Keywords

  • Adenylosuccinate lyase deficiency
  • Myoclonic tremor
  • Paroxysmal movement disorder

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