3 documents found, page 1 of 1
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case r...
Scola,Rosana Herminia; Werneck,Lineu Cesar; Iwamoto,Fabio Massaiti; Ribas,Letícia Cristine; Raskin,Salmo; Correa Neto,YlmarWe report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic ...
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2...
Lopes-Cendesi,Iscia; Teive,Hélio G.A.; Calcagnotto,Maria E; da Costa,Jaderson C.; Cardoso,Francisco; Viana,Erika; Maciel,Jaime A.; Radvany,JoãoSpinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by a...
Neuronopatia sensitiva aguda idiopática: relato de caso
Werneck,Lineu César; Correa Neto,Ylmar; Scola,Rosana HermíniaAs neuronopatias sensitivas caracterizam-se por parestesias, ataxia sensitiva e arreflexia sem comprometimento motor, devidas a lesão no gânglio sensitivo dorsal, com degeneração axonal e do cordão posterior da medula espinhal. Descrevemos o caso de uma paciente de 21 anos de idade, cuja doença se iniciou de modo agudo com parestesias distais, astasia, abasia e hiporreflexia. Força muscular normal. A condução n...