Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
ADCY5 gene mutation: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Tezen Didem, Gunduz Aysegul, Erdemir Kiziltan Meral, Yalcinkaya Cengiz, Kiziltan Gunes
Аннотация
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.
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.