A Case of Kennedy Disease and Literature Review
Journal: Journal of Clinical Medicine Research DOI: 10.32629/jcmr.v6i3.4438
Abstract
Kennedy disease, also known as spinal and bulbar muscular atrophy, is an X-linked neurodegenerative genetic disorder caused by mutations in the androgen receptor gene. The clinical manifestations typically initially present with slowly progressive proximal lower limb weakness, accompanied by androgen insensitivity symptoms such as tremor, muscle spasm, dysphagia, gynecomastia, and testicular atrophy. Herein, we report one case of Kennedy disease diagnosed at Hunan Provincial People's Hospital.
Keywords
kennedy disease, spinal bulbar muscular atrophy, motor neuron disease, neurogenetics
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[3] Fratta P, Nirmalananthan N, Masset L, et al. Correlation of clinical and molecular features in spinal bulbar muscular atrophy [J]. Neurology, 2014, 82(23): 2077-2084.
[4] Yasuhiro Hijikata, Masahisa Katsuno, Keisuke Suzuki, et al. Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy [J]. Ann Clin Transl Neurol, 2016, 3(7): 537-546.
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[6] Ni W, Chen S, Qiao K, et al. Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy [J]. PloS one, 2015, 10(3): e0122279.
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[8] Frederick J Arnold, Diane E Merry. Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease [J]. Neurotherapeutics, 2019, 16(4): 928-947.
[9] Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, et al. Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study [J]. J Neurol Neurosurg Psychiatry, 2017, 88(12): 1026-1032.
[10] Katsuno M., Adachi H., Doyu M., et al. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy [J]. Nat Med, 2003, 9(6): 768-773.
[11] Banno H., Katsuno M., Suzuki K., et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy [J]. Ann Neurol, 2009, 65(2): 140-150.
[12] Ma Zhi, Zhao Huihui, Luo Maotao, et al. Research Progress on the Pathogenesis and Pharmacological Treatment of Kennedy's Disease [J]. Chinese Journal of Clinical Neuroscience, 2022, 30(03): 350-356.
[13] Fernández-Rhodes L. E., Kokkinis A. D., White M. J., et al. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial [J]. Lancet Neurol, 2011, 10(2): 140-147.
[14] Yasuhiro Hijikata, Masahisa Katsuno, Keisuke Suzuki, et al. Treatment with Creatine Monohydrate in Spinal and Bulbar Muscular Atrophy: Protocol for a Randomized, Double-Blind, Placebo-Controlled Trial [J]. JMIR Res Protoc, 2018, 7(3): e69.
[15] Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, et al. Study protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS) [J]. BMJ Open, 2018, 8(9): e023041.
[2] La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy [J]. Nature genetics, 1992, 2(4): 301-304.
[3] Fratta P, Nirmalananthan N, Masset L, et al. Correlation of clinical and molecular features in spinal bulbar muscular atrophy [J]. Neurology, 2014, 82(23): 2077-2084.
[4] Yasuhiro Hijikata, Masahisa Katsuno, Keisuke Suzuki, et al. Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy [J]. Ann Clin Transl Neurol, 2016, 3(7): 537-546.
[5] Kennedy WR, Alter M. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait [J]. Journal of clinical neuromuscular disease, 2000, 2(1): 3-5.
[6] Ni W, Chen S, Qiao K, et al. Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy [J]. PloS one, 2015, 10(3): e0122279.
[7] Sussman J, Farrugia ME, Maddison P, et al. Myasthenia gravis: Association of British Neurologists' management guidelines [J]. Practical neurology, 2015, 15(3): 199-206.
[8] Frederick J Arnold, Diane E Merry. Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease [J]. Neurotherapeutics, 2019, 16(4): 928-947.
[9] Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, et al. Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study [J]. J Neurol Neurosurg Psychiatry, 2017, 88(12): 1026-1032.
[10] Katsuno M., Adachi H., Doyu M., et al. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy [J]. Nat Med, 2003, 9(6): 768-773.
[11] Banno H., Katsuno M., Suzuki K., et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy [J]. Ann Neurol, 2009, 65(2): 140-150.
[12] Ma Zhi, Zhao Huihui, Luo Maotao, et al. Research Progress on the Pathogenesis and Pharmacological Treatment of Kennedy's Disease [J]. Chinese Journal of Clinical Neuroscience, 2022, 30(03): 350-356.
[13] Fernández-Rhodes L. E., Kokkinis A. D., White M. J., et al. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial [J]. Lancet Neurol, 2011, 10(2): 140-147.
[14] Yasuhiro Hijikata, Masahisa Katsuno, Keisuke Suzuki, et al. Treatment with Creatine Monohydrate in Spinal and Bulbar Muscular Atrophy: Protocol for a Randomized, Double-Blind, Placebo-Controlled Trial [J]. JMIR Res Protoc, 2018, 7(3): e69.
[15] Shinichiro Yamada, Atsushi Hashizume, Yasuhiro Hijikata, et al. Study protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS) [J]. BMJ Open, 2018, 8(9): e023041.
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