Neurol. praxi. 2017;18(5):348-351 | DOI: 10.36290/neu.2017.041
In the shadow of cerebral palsy: a case of ADCY5 related dyskinesias
- 1 Neurologické oddelenie, Nemocnica Zvolen
- 2 Neurologická klinika, LF UPJ© a UNLP, Koąice
We report a case of 39 years old woman diagnosed with dyskinetic cerebral palsy and perinatal hypoxic encephalopathy. Two yearsafter a complicated delivery, paroxysmal choreatic limb movements, which became generalized and persistent later on, graduallydeveloped. After many years, a mutation in ADCY5 gene was identified through whole exome sequencing, which is probably thefirst reported case of ADCY5 related dyskinesias in Slovakia. We present a case report of the patient and a brief summary of theessential facts about this recently described condition.
Keywords: ADCY5, cerebral palsy, paroxysmal dyskinesias, case report
Received: September 4, 2017; Accepted: September 11, 2017; Published: November 1, 2017 Show citation
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References
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