Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

Background In clinical practice, myoclonus in childhood-onset neurogenetic disorders frequently remains unrecognized, because it is often overshadowed by other neurological features. Since treatment can lead to significant functional improvement, accurate phenotyping is essential. To demonstrate the importance of early identification and treatment, we report on four patients with various childhood-onset neurogenetic disorders suffering from myoclonus. Methods We evaluated four patients with established childhood-onset neurogenetic disorders and involuntary jerky movements, who visited our young-onset movement disorder outpatient clinic. Results We present the clinical data of four patients (aged 8-21 years) with childhood-onset neurogenetic disorders, including ataxia-telangiectasia, Coffin-Lowry syndrome and epileptic encephalopathy due to SCN1A mutations. All four suffered from jerky movements that hampered normal daily activities and that had gone unrecognized for several years. The presence of multifocal myoclonus was confirmed by polymyography. In all patients, treatment resulted in marked improvement of both myoclonus and overall functioning. Conclusion These cases highlight the relevance of actively searching for myoclonus in childhood-onset neurogenetic disorders, even when a molecular diagnosis has already been established. To further improve the awareness and recognition of myoclonus in children, we provide a list of childhood-onset neurogenetic disorders with myoclonus as important associated feature.

Detaljer

Författare
  • Martje E. Van Egmond
  • Jan Willem J. Elting
  • Anouk Kuiper
  • Rodi Zutt
  • Kirsten R. Heineman
  • Oebele F. Brouwer
  • Deborah A. Sival
  • Michel A. Willemsen
  • Marina A.J. Tijssen
  • Tom J. De Koning
Externa organisationer
  • University Medical Center Groningen
  • Radboud University Medical Center
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Neurologi

Nyckelord

Originalspråkengelska
Sidor (från-till)726-729
Antal sidor4
TidskriftEuropean Journal of Paediatric Neurology
Volym19
Utgåva nummer6
StatusPublished - 2015 jan 1
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa