Author/Editor		Korošec, Marko; Meznarič-Petruša, Mija; Peterlin, Borut; Zidar, Janez
Title		Prikaz dveh bolnikov (bratov) z bulbospinalno mišično atrofijo
Translated title		Bulbospinal muscular atrophy - a case report on two patients (brothers)
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 68, št. 11
Publication year		1999
Volume		str. 635-8
Language		slo
Abstract		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 loss of 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.
Summary		Izhodišča. Bulbospinalna mišična atrofija, imenovana tudi Kennedyjeva bolezen, je redka, na kromosom X vezana bolezen spodnjih motoričnih nevronov, za katero so značilne tudi motnje v delovanju endokrinega sistema. Diagnozo je mogoče postaviti po kliničnih in elektrofizioloških znakih, potrditi pa z ugotovitvijo specifične molekularne genetske nenormalnosti. Podajamo prvi opis primera te bolezni v Sloveniji. Zaključki. Naša bolnika sta imela tipične klinične in elektrofiziološke znake (mišične krče, fascikulacije - posebno značile v obraznih mišicah, atrofične in oslabele proksimalne mišice udov, motnje v delovanju žlez z notranjim izločanjem, elektrofiziološko pa izrazite kronične nevrogene spremembe potencialov motoričnih enot in znake izgube senzoričnih aksonov). Pri obeh smo ugotovili tudi mutacijo v genu za androgenski receptor. Učinkovitega zdravljenja te bolezni za sedaj še ni.
Descriptors		MUSCULAR ATROPHY, SPINAL HEREDITARY DISEASES DNA MUTATIONAL ANALYSIS MOTOR NEURON DISEASE SLOVENIA X CHROMOSOME RECEPTORS, ANDROGEN