ADCY5 gene mutation: a case report

Background ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial. Patient description This report looks at the involuntary movements that started early in life in a 5-year-old girl....

Full description

Saved in:
Bibliographic Details
Published in:Neurological sciences 2022-12, Vol.43 (12), p.6947-6950
Main Authors: Tezen, Didem, Gunduz, Aysegul, Erdemir Kiziltan, Meral, Yalcinkaya, Cengiz, Kiziltan, Gunes
Format: Article
Language:English
Subjects:
ADCY5 gene
Brief Communication
Case reports
Consent
Disease
Drug resistance
Dyskinesia
Dystonia
Genetic counseling
Magnetic resonance imaging
Medicine
Medicine & Public Health
Metabolism
Movement disorders
Mutation
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Patients
Point mutation
Psychiatry
Sleep
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial. Patient description This report looks at the involuntary movements that started early in life in a 5-year-old girl. Results Patient’s electroensephalogram and cranial magnetic resonance imaging were normal. Metabolic scans were normal. ADCY5 mutation was found in whole exome sequencing of the patient who did not have a similar family history. Conclusion Some features such as the worsening of involuntary movements after sleep and the presence of hypotonia in our patient suggested this mutation. Our patient is resistant to more than one drug. With this report, we aimed to pave the way for better understanding of the gene and the discovery of different treatment options.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-022-06394-0