[Kennedy's disease--case report].

Kazimierz Tomczykiewicz; Beata Wrodycka; Anna Sułek

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PubMed · 15997639

[Kennedy's disease--case report].

Kazimierz Tomczykiewicz·Beata Wrodycka·Anna Sułek

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Abstract

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.

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Chromosomes, Human, X Diagnosis, Differential Electromyography Humans Male Middle Aged Muscular Atrophy, Spinal Trinucleotide Repeats Case Reports English Abstract Journal Article

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Kazimierz Tomczykiewicz, Beata Wrodycka, Anna Sułek. 2005. [Kennedy's disease--case report].. https://pubmed.ncbi.nlm.nih.gov/15997639/

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