Objetivo: Verificar o benefício de terapia fonoaudiológica em grupo na inteligibilidade de fala de pacientes com Doença de Machado Joseph (DMJ). Método: Realizou-se uma série de casos, com pacientes atendidos em um ambulatório de fonoaudiologia para adultos neurodegenerativos em um hospital de refe...
Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, befor...
El síndrome de Brooke-Spiegler (SBS) es una entidad rara, autosómica dominante, que ocurre por mutaciones del gen CYLD, el cual funciona como supresor de tumores. Se presenta el caso de una mujer de 50 años de edad, con historia de aparición de lesiones características de tricoepiteliomas que predom...
RESUMO A doença de Machado-Joseph é a forma de ataxia espinocerebelar de maior prevalência no Brasil e tem como alguns dos principais sinais clínicos a disfagia e a disartria. Este relato de caso objetivou verificar os efeitos da intervenção intensiva fonoaudiológica em um paciente com a doença d...
ABSTRACT Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of this disease, more than 40 years ago....
Ferreira, Arthur de Sá;
Orsini, Marco;
Felício, Lilian Ramiro;
Rodrigues, Erika Carvalho;
Souza, Jano Alves de;
Leite, Marco Antonio Araújo;
Oliveira, Acary Bulle;
Nunes, Monara;
Bastos, Victor Hugo do Vale;
Teixeira, Silmar;
Nascimento, Osvaldo J. N;
Freitas, Marcos R. G. de.
INTRODUCTION: This study investigated the movement strategies for postural control in patients with spinocerebellar ataxia type 3 (SCA3). METHODS: This case-control study enrolled 5 patients with SCA3 (aged 41 to 51 years) and 5 healthy participants group-matched by age, body mass and body height.Partici...
ABSTRACT The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large...
Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portu...
Neuropatías Amiloides Familiares/diagnóstico,
Neuropatías Amiloides Familiares/psicología,
Ansiedad/clasificación,
Ansiedad/diagnóstico,
Ansiedad/psicología,
Enfermedades Asintomáticas/psicología,
Estudios Transversales,
Enfermedad de Huntington/diagnóstico,
Enfermedad de Huntington/psicología,
Enfermedad de Machado-Joseph/diagnóstico,
Enfermedad de Machado-Joseph/psicología,
Persona de Mediana Edad,
Portugal,
Valor Predictivo de las Pruebas,
Encuestas y Cuestionarios,
Factores de Tiempo
