ABSTRACT
INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68 percent) - all typical cases. In 8 patients (32 percent) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion
Subject(s)
Humans , Male , Female , Friedreich Ataxia , Trinucleotide Repeat Expansion , Age of Onset , Genotype , PhenotypeABSTRACT
Com o objetivo de estudar o prognóstico de deambulaçäo em crianças com paralisia cerebral, foi feito estudo retrospectivo de 100 crianças em tratamento na Associaçäo de Assistência à Criança Defeituosa, no período de 1979 a 1988. Foram analisados os seguintes parâmetros, correlacionando-os à capacidade de adquirir ou näo a criança a deambulaçäo: (1) grau de comprometimento motor ; (2) idade de aquisiçäo do equilibrio sentado; (3) funçäo de membros superiores; (4) grau de retardo mental; (5) presença de reflexos primitivos. Os resultados do nosso estudo sugerem que säo fatores indicativos de mau prognóstico de deambulaçäo: (1) gravidade do quadro motor; (2) aquisiçäo da postura sentada após os 3 anos; (3) funçäo precária de membros superiores; (4) retardo mental grave associado a grave deficiência física. A avaliaçäo clínica de reflexos primitivos das crianças do nosso estudo näo revelou relaçäo direta com o prognóstico de deambulaçäo
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Cerebral Palsy/physiopathology , Motor Activity , Prognosis , Retrospective Studies , WalkingABSTRACT
Foram estudados 20 pacientes portadores de mielomeningocele do ponto de vista de continência e preservaçäo do trato urinário, após treinamento vesical, com período médio de evoluçäo de 19,9 anos (mínimo de 14 anos; máximo de 30 anos). Cinquenta por cento dos pacientes (10 casos) adquiriram continência satisfatória. Todos os pacientes iniciaram o treinamento vesical com o trato urinário em boas condiçöes, sendo que 3 foram submetidos a tratamento cirúrgico antes do início do treinamento (2 nefroureterectomias e 1 plástica anti-refluxo). Após o início do treinamento, 5 pacientes desenvolveram refluxo e foram tratados por plástica antirefluxo (4) e clinicamente (1). A manobra mais eficiente foi a de Valsalva