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  • Prikaz dveh bolnikov (bratov) z bulbospinalno mišično atrofijo = Bulbospinal muscular atrophy - a case report on two patients (brothers)
    Korošec, Marko, 1971- ...
    Background. Bulbospinal muscular atrophy, named also Kennedy's disease, is a rare, X linked recessive disorder of lower motor neurones with additional features of endocrine dysfunction. The diagnosis ... is based on rather characteristic clinical and eleclrophysiologic findings, and is confirmed by the detection of specific molecular genetic abnormality. In the first case-report on this disease in Slovenia we present two patients. Conclusions. Our patients had typical clinical and electrophysiological signs (muscle cramps, fasciculations - especially of the face muscles, proximal limb muscle atrophies and weakness, endocrine dysfunction, marked chronic neurogenic alteration of the motor unit potentials and electrophysiological signs of lossof sensory axons). Specific mutation in the androgene receptor gene was found in both of them. There is no effective causative treatment of this condition yet.
    Source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 68, št. 11, 1999, str. 635-638)
    Type of material - article, component part
    Publish date - 1999
    Language - slovenian
    COBISS.SI-ID - 10992089

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