BLADDER INVOLVEMENT IN KENNEDY'S DISEASE: A RARE ASSOCIATION. Issue 10 (9th September 2014)

• Record Type: Journal Article
• Authors: Mirza, Farhat; Panicker, Jalesh; Harikrishnan, Sreedharan
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 85:Issue 10(2014)
• Page Start: e4
• Page End: e4
• Publication Date: 2014-09-09
• Subjects: EPILEPSY; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2014-309236.174
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by progressive proximal limb weakness, bulbar weakness, fasciculation, androgen insensitivity and characteristic electromyography findings. A 44 year old Caucasian police officer presented with asymmetric sensory symptoms of pins and needles in both legs. In addition, he had dysphagia and history suggestive of intrinsic hand muscle weakness and lower urinary tract symptoms (LUTS) for 1 year. He had surgery for bilateral gynaecomastia. His maternal grandfather had been investigated for suspected multiple sclerosis and two brothers had surgery for gynaecomastia. Examination revealed bifacial weakness and bilateral partial ptosis. There were fasciculation in the muscles of the shoulder girdle and upper limb with wasting of the small muscles of the hands bilaterally. In the lower limbs, there was wasting of the quadriceps muscles, clawing of toes and weakness of hip flexion. EMG showed absent left sural sensory potential, fasciculation and evidence of chronic partial denervation in the arms. The diagnosis was confirmed with an abnormal CAG repeat of 44 within the XLBSN gene. EMG of the anal sphincter showed evidence of reinnervation (Large motor units above 6mv). The Sphincter EMG suggests the pathological role of Onufrowicz nucleus (ON). To our knowledge, this is the first reported case of Kennedy's disease genotype with bladder involvement.