RESUMO
We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were examined by two movement-disorder neurologists. Two other movement-disorder neurologists evaluated the videos independently. Subjects were classified as "affected," "possibly affected," or "not affected." A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio-cervical-brachial dystonia. Mean age at onset was 45.5 years (range, 39-56). Mean BFMDRS motor score was 4.4 (range, 1-8). Mean TWSTRS score (part I) was 11.3 (range, 8-23). Mutations in DYT1 gene and in the epsilon-sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia.
Assuntos
Distúrbios Distônicos/genética , Distúrbios Distônicos/fisiopatologia , Saúde da Família , Adulto , Idoso , Criança , Análise Mutacional de DNA , Distúrbios Distônicos/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares/genética , Países Baixos/epidemiologia , Polimorfismo de Nucleotídeo Único , Sarcoglicanas/genética , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Unexplained neurological dysfunction, which used to be known as conversion disorder, is rare following general anaesthesia. This phenomenon is difficult to identify in this situation because medically induced dysfunction (anaesthesia) turns into unexplained dysfunction. CASE DESCRIPTION: A 58-year-old man remained unresponsive to any stimuli for longer than expected following uncomplicated surgery under general anaesthesia, although his vital functions were normal. It was 2 hours after the operation before a slight eyelid response was shown. He then lay motionless in bed for several hours. Complete recovery of spontaneous movement and motor functions took 12 hours. No explanation was found. CONCLUSION: Unexplained neurological dysfunction can also occur following general anaesthesia. The diagnosis is made by neurological assessment. A wait-and-see approach is the management policy because the neurological dysfunction disappears spontaneously.