Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report Fenótipo de doença de Kennedy com estudo genético positivo para doença de Kugelberg-Welander: relato de caso

• Main Authors: Ana P. Trentin, Rosana H. Scola, Hélio A.G. Teive, Salmo Raskin, Francisco M.B. Germiniani, Lineu C. Werneck
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 2005-06-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: doença de Kennedy; doença de Kugelberg-Welander; teste genético; Kennedy's disease; Kugelberg-Welander's disease; genetic test
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000200025

We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.<br>Descrevemos um paciente com achados clínicos de doença de Kennedy e estudo genético positivo para doença de Kugelberg-Welander. Homem, 24 anos e história familiar negativa, iniciou aos 14 anos com atrofia muscular espinhal de caráter progressivo com ginecomastia. Obteve diagnóstico clínico de doença de Kennedy, entretanto o estudo genético foi negativo para esta doença e positivo para doença de Kugelberg-Welander, com deleções dos exons 7 e 8 e do gene do survival of motor neuron.