RESUMEN
We describe seven patients with genetically confirmed Huntington's disease (HD) who had non-choreic movement disorders as presenting symptoms or signs. Patients with movement disorders other than chorea in the early stages tended to have larger CAG trinucleotide repeat expansion in comparison with more "typical" HD patients.
Nós descrevemos sete pacientes com doença de Huntington, geneticamente confirmada, cuja apresentação motora inicial foi diferente de coréia. Pacientes com manifestação motora inicial diferente de coréia apresentaram maior número de expansões repetidas de CAG trinucleotídeo quando comparados com aqueles com sintomatologia motora "típica".
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Huntington/genética , Expansión de Repetición de Trinucleótido/genética , Distonía/diagnóstico , Distonía/genética , Electroforesis en Gel de Poliacrilamida , Enfermedad de Huntington/diagnóstico , Imagen por Resonancia Magnética , Reacción en Cadena de la Polimerasa , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/genética , Tomografía Computarizada por Rayos X , Tics/diagnóstico , Tics/genéticaRESUMEN
A síndrome de Tourette (ST) é uma patologia de comprometimento psicossocial que acarreta alterações significativas na vida dos seus portadores e respectivos familiares. Este artigo aborda diversos aspectos relacionados a esta doença, incluindo etiologia, epidemiologia, aspectos neurobiológicos, quadro clínico, diagnóstico, patologias associadas e tratamento (clássico e alternativo). Neste trabalho, ainda comparamos a ST com outras doenças, envolvendo tiques e mencionamos as associações de apoio aos pacientes portadores de ST, que auxiliam no tratamento e na socialização do paciente afetado.
Asunto(s)
Síndrome de Tourette/fisiopatología , Tics/patología , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiología , Síndrome de Tourette/psicología , Síndrome de Tourette/terapia , Tics/diagnóstico , Tics/psicología , Tics/terapiaAsunto(s)
Femenino , Humanos , Masculino , Tics , Tics/clasificación , Tics/diagnóstico , Tics/etiología , Síndrome de Tourette/complicacionesAsunto(s)
Humanos , Masculino , Femenino , Tics/diagnóstico , Tics/clasificación , Tics/etiología , Síndrome de Tourette/complicacionesRESUMEN
We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2 percent) had TS defined criteria whereas 10 (22.7 percent) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7 percent), mainly affecting the eyes (43.2 percent), mouth (43.2 percent), face (34.1 percent). Simple vocal tics occurred in 33 (75 percent). Coprolalia was found in just 6 cases (13.6 percent) and copropraxia in just 2 (4.5 percent). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1 percent) and attention deficit in 17 (38.6 percent). Eighteen patients (40.9 percent) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders