Weakness and progressive muscle tightness diagnosed as Kennedy disease
International Clinical Neuroscience Journal,
Vol. 2 No. 4 (2015),
5 May 2016
,
Page 147-148
https://doi.org/10.22037/icnj.v2i4.11671
Abstract
Kennedy disease is a rare X-linked neurodegenerative disorder that affects patients in 30-50 years of age. It is caused by CAG-repeat in androgen receptor gen. There is no known effective treatment for Kennedy disease. We report a 60-year-old man who had fasciculations and proximal and distal muscle weakness. Physical examination showed involvement of the bulbar musculature accompanied by tongue atrophy and perioral muscle weakness. Furthermore, he had bilateral gynecomastia. Laboratory and imaging findings were normal, except electromyography that showed chronic proximal and distal denervation. Finally, the patient diagnosed with Kennedy disease according to clinical presentation and EMG abnormality that confirmed with genetic study.
- Spinobulbar muscular atrophy
- Kennedy disease
- x-linked
- Neurodegenerative
How to Cite
References
Su³ek A, Hoffman-Zacharska D, Krysa W, Szirkowiec W. CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group. J Appl Genet. 2005;46(2):237-9.
Goetz CG. Textbook of clinical neurology: Elsevier Health Sciences; 2007.
Dimachkie MM, Barohn RJ, editors. Idiopathic inflammatory myopathies. Seminars in neurology; 2012: NIH Public Access.
Finsterer J. Perspectives of Kennedy's disease. Journal of the Neurological Sciences. 2010;298(1):1-10.
Malik B, Nirmalananthan N, Bilsland LG, La Spada AR, Hanna MG, Schiavo G, et al. Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. Human molecular genetics. 2011:ddr061.
Parboosingh J, Figlewicz D, Krizus A, Meininger V, Azad N, Newman D, et al. Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology. 1997;49(2):568-72.
Grunseich C, Rinaldi C, Fischbeck K. Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral diseases. 2014;20(1):6-9.
- Abstract Viewed: 257 times
- PDF Downloaded: 312 times