[Kennedy's disease--case report].
Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a rare neurological illness inherited recessively, linked with chromosome X. The first symptoms appear in the adult age and result from degeneration of both motor and sensory neurons. The disease begins differently, thus causing diagnostic mistakes. In our case the symptoms suggested discopathy, therefore the patient was operated on L5-S1 discopathy, which did not improve lower limb muscle strength. This entailed further diagnostic work-up. The EMG (needle) examination showed widespread chronic denervation with reinnervation in the muscles of the limbs. The genetic examination revealed increased number of CAG(45) trinucleotide repeats, thus confirming a suspicion of Kennedy's disease.
Tomczykiewicz
Kazimierz
K
Wojskowy Instytut Medyczny, Klinika Neurologiczna CSK MON w Warszawie. kaziura@poczta.onet.pl
Wrodycka
Beata
B
Sułek
Anna
A
D041321:Chromosomes, Human, X / Q000235:genetics; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics