Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
Tremor Other Hyperkinet Mov (N Y)
; 102019.
Article
em En
| MEDLINE
| ID: mdl-32002278
ABSTRACT
Background:
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population. Case report In a patient who reported to clinic with side effects of carbamazepine, PRRT2 gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed PRRT2-associated PKD in Africa.Discussion:
Reporting genetic confirmation of an unusual movement disorder from an equally unusual location shows the wide geographical distribution of PRRT2-associated disease. It also illustrates recognizability of this treatable disorder where the easiest accessible diagnostic tool is neurological history and examination.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Distonia
/
Proteínas de Membrana
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Tremor Other Hyperkinet Mov (N Y)
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Tanzânia