Spinal and bulbar muscular atrophy (Kennedy’s disease): case description

Abstract

Kennedy’s X-linked spinal and bulbar muscular atrophy is a rare hereditary lower motoneuron neurodegenerative disease, which is based on the genetic defect of the androgen receptor’s first exon (AR), characterized by an abnormal increase of CAG-repeats. This article describes a clinical case of a patient with complaints about low limb weakness, walking distance shortening to 400–500 meters, coordination disturbances, and moderate polyneuropathy. According to complaints, neurological examination and patient’s family history, a genetic study was performed confirming the proposed diagnosis. Following neurometabolic, vitamin, physical therapy, physiotherapy and acupuncture were performed and the patient’s physical activity increasing and intensity of symptoms reduction was achieved. The article also highlights the features of pathogenesis and the prospects for pathogenetic treatment of this disease.

Keywords

• adult spinal amyotrophy
• kennedy’s disease
• spinal and bulbar muscular atrophy
• trinucleotide repeat expansion diseases
• syndrome of pathological muscle fatigue