Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report.
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.
Trentin
Ana P
AP
Department of Internal Medicine, Neuromuscular Service, Clinical Hospital, Universidade Federal do Paraná, Curitiba PR, Brazil.
Scola
Rosana H
RH
Teive
Hélio A G
HA
Raskin
Salmo
S
Germiniani
Francisco M B
FM
Werneck
Lineu C
LC
D000328:Adult; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins