Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese po...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2013-06-01
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| Series: | Journal of the Formosan Medical Association |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664612002422 |
| _version_ | 1819229716311179264 |
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| author | Ser-Chen Fu Hung-Chou Kuo Chun-Che Chu Yih-Ru Wu Long-Sun Ro Chin-San Liu Chin-Chang Huang |
| author_facet | Ser-Chen Fu Hung-Chou Kuo Chun-Che Chu Yih-Ru Wu Long-Sun Ro Chin-San Liu Chin-Chang Huang |
| author_sort | Ser-Chen Fu |
| collection | DOAJ |
| description | Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese population. The purpose of the study aimed to investigate early diagnosis and long-term prognosis of SBMA.
Methods: We retrospectively analyzed 21 genetically confirmed SBMA patients who visited our hospital between 1993 and 2010, focusing on clinical symptoms, nerve conduction studies, and functional disability. We also analyzed the relationship between length of cytosine-adenine-guanine (CAG) repeats and age of disease onset.
Results: Weakness developed at a mean age of 39 ± 7 years (mean ± standard deviation). The length of CAG repeats and age at onset of weakness showed inverse (but nonsignificant) correlation. The most common symptoms at initial presentation were hand tremor (86%), limb weakness (86%), and perioral fasciculation (76%). Creatine kinase (CK) was elevated in 17 out of 18 patients. Initial nerve conduction studies showed statistical difference from normal controls, especially decreased amplitudes of compound motor action potential (CMAP) and sensory nerve action potential (SNAP). Functional disability showed very slow progression, with only three patients becoming wheelchair-dependent during follow-up at a median age of 72 years.
Conclusion: Patients with SBMA may present with a myriad of symptoms, including limbs weakness, tremor, muscle atrophy, and perioral fasciculations. Elevated serum CK and decreased CMAP and SNAP amplitudes were supportive laboratory findings of SBMA. Disease progression was gradual, and most patients remained functionally independent many years after the onset of weakness. |
| first_indexed | 2024-12-23T11:17:36Z |
| format | Article |
| id | doaj.art-b42a214454a34f7c88ea48de5aeb1029 |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-23T11:17:36Z |
| publishDate | 2013-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-b42a214454a34f7c88ea48de5aeb10292022-12-21T17:49:11ZengElsevierJournal of the Formosan Medical Association0929-66462013-06-01112632633110.1016/j.jfma.2012.03.008Long-term follow-up of spinal and bulbar muscular atrophy in TaiwanSer-Chen Fu0Hung-Chou Kuo1Chun-Che Chu2Yih-Ru Wu3Long-Sun Ro4Chin-San Liu5Chin-Chang Huang6Department of Neurology, Chang Gung Memorial Hospital in Linkou, and Chang Gung University, Taipei, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital in Linkou, and Chang Gung University, Taipei, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital in Linkou, and Chang Gung University, Taipei, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital in Linkou, and Chang Gung University, Taipei, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital in Linkou, and Chang Gung University, Taipei, TaiwanDepartment of Neurology, Buddhist Tzu-Chi General Hospital, Taipei, TaiwanDepartment of Neurology, Changhua Christian Hospital, Changhua, TaiwanSpinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese population. The purpose of the study aimed to investigate early diagnosis and long-term prognosis of SBMA. Methods: We retrospectively analyzed 21 genetically confirmed SBMA patients who visited our hospital between 1993 and 2010, focusing on clinical symptoms, nerve conduction studies, and functional disability. We also analyzed the relationship between length of cytosine-adenine-guanine (CAG) repeats and age of disease onset. Results: Weakness developed at a mean age of 39 ± 7 years (mean ± standard deviation). The length of CAG repeats and age at onset of weakness showed inverse (but nonsignificant) correlation. The most common symptoms at initial presentation were hand tremor (86%), limb weakness (86%), and perioral fasciculation (76%). Creatine kinase (CK) was elevated in 17 out of 18 patients. Initial nerve conduction studies showed statistical difference from normal controls, especially decreased amplitudes of compound motor action potential (CMAP) and sensory nerve action potential (SNAP). Functional disability showed very slow progression, with only three patients becoming wheelchair-dependent during follow-up at a median age of 72 years. Conclusion: Patients with SBMA may present with a myriad of symptoms, including limbs weakness, tremor, muscle atrophy, and perioral fasciculations. Elevated serum CK and decreased CMAP and SNAP amplitudes were supportive laboratory findings of SBMA. Disease progression was gradual, and most patients remained functionally independent many years after the onset of weakness.http://www.sciencedirect.com/science/article/pii/S0929664612002422Kennedy diseasespinal and bulbar muscular atrophyTaiwanX-linked recessive bulbospinal muscular atrophy |
| spellingShingle | Ser-Chen Fu Hung-Chou Kuo Chun-Che Chu Yih-Ru Wu Long-Sun Ro Chin-San Liu Chin-Chang Huang Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan Journal of the Formosan Medical Association Kennedy disease spinal and bulbar muscular atrophy Taiwan X-linked recessive bulbospinal muscular atrophy |
| title | Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan |
| title_full | Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan |
| title_fullStr | Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan |
| title_full_unstemmed | Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan |
| title_short | Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan |
| title_sort | long term follow up of spinal and bulbar muscular atrophy in taiwan |
| topic | Kennedy disease spinal and bulbar muscular atrophy Taiwan X-linked recessive bulbospinal muscular atrophy |
| url | http://www.sciencedirect.com/science/article/pii/S0929664612002422 |
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