American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2015, 3(7), 195-197
DOI: 10.12691/ajmcr-3-7-3
Open AccessCase Report

Kennedy’s Disease, a Mimic of Amyotrophic Lateral Sclerosis: A Case Report

Md Enayet Hussain1, , Md Nahidul Islam1, AFM Al Masum Khan1, Md Ferdous Mian1, Md. Abdullah Yusuf2 and Rajib Nayan Chowdhury1

1Department of Neurophysiology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh

2Department of Microbiology, National Institute of Neurosciences & Hospital Dhaka, Bangladesh

Pub. Date: June 04, 2015

Cite this paper:
Md Enayet Hussain, Md Nahidul Islam, AFM Al Masum Khan, Md Ferdous Mian, Md. Abdullah Yusuf and Rajib Nayan Chowdhury. Kennedy’s Disease, a Mimic of Amyotrophic Lateral Sclerosis: A Case Report. American Journal of Medical Case Reports. 2015; 3(7):195-197. doi: 10.12691/ajmcr-3-7-3


Kennedy’s disease is an adult-onset, X-linked recessive trinucleotide, polyglutamine disorder, caused by expansion of a polymorphic CAG tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chromosome Xq11-12. We report a case of 60 year old non-diabetic, normotensive, non-smoker, non-alcoholic male presenting with gradual onset and progressive difficulty in swallowing, nasal intonation of speech, generalized wasting and weakness with cramps and fasciculation without any sensory symptoms for around one year. Examination revealed gross emaciation, bilateral gynaecomastia, nasal speech with absent gag reflex, wasted and fasciculating tongue, wasted limb muscles with widespread fasciculation, bilateral postural tremor without any cognitive and sensory impairment. Investigation revealed elevated serum CPK. Electro-diagnostic (EDX) features are consistent with a slowly progressive and very chronic degeneration of the anterior horn cells and dorsal root ganglia (absent SNAP). MRI of the brain and cervical spine revealed no abnormality. Ultimately the genetic analysis confirmed the case as Kennedy’s disease.

Kennedy’s disease; amyotrophic lateral sclerosis; Bulbar and spinal muscular atrophy

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