高齢発症のII型呼吸不全を契機に診断されたselenoprotein関連ミオパチーの1例
症例は71歳女性．II型呼吸不全の原因精査のため当科に入院した．60歳代後半から体幹の筋力低下に気づいていたが，日常生活は自立していた．両親がいとこ婚で姉に類症があり，傍脊柱筋，大腿屈筋と縫工筋に選択的な筋萎縮を認めた．筋生検では筋障害は軽度であったが，遺伝子解析でSELENON（SEPN1）遺伝子に未報告のホモ接合型バリアント（c.227T>C p.Phe76Ser）を認めた．Selenoprotein関連ミオパチーは，幼少期までに発症することがほとんどで，本症例は呼吸不全で顕在化した高齢発症の初めての報告である．...
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| Published in | 臨床神経学 Vol. 61; no. 4; pp. 243 - 246 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2021
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001544 |
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| Abstract | 症例は71歳女性．II型呼吸不全の原因精査のため当科に入院した．60歳代後半から体幹の筋力低下に気づいていたが，日常生活は自立していた．両親がいとこ婚で姉に類症があり，傍脊柱筋，大腿屈筋と縫工筋に選択的な筋萎縮を認めた．筋生検では筋障害は軽度であったが，遺伝子解析でSELENON（SEPN1）遺伝子に未報告のホモ接合型バリアント（c.227T>C p.Phe76Ser）を認めた．Selenoprotein関連ミオパチーは，幼少期までに発症することがほとんどで，本症例は呼吸不全で顕在化した高齢発症の初めての報告である． |
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| AbstractList | 症例は71歳女性．II型呼吸不全の原因精査のため当科に入院した．60歳代後半から体幹の筋力低下に気づいていたが，日常生活は自立していた．両親がいとこ婚で姉に類症があり，傍脊柱筋，大腿屈筋と縫工筋に選択的な筋萎縮を認めた．筋生検では筋障害は軽度であったが，遺伝子解析でSELENON（SEPN1）遺伝子に未報告のホモ接合型バリアント（c.227T>C p.Phe76Ser）を認めた．Selenoprotein関連ミオパチーは，幼少期までに発症することがほとんどで，本症例は呼吸不全で顕在化した高齢発症の初めての報告である． |
| Author | 小笠原, 真志 山田, 友美 藤田, 信也 西野, 一三 梅田, 麻衣子 岩渕, 洋平 |
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| References | 11) Hankiewicz K, Carlier RY, Lazaro L, et al. Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve 2015;52:728-735. 12) Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749. 4) de Jager AE, van der Vliet TM, van der Ree TC, et al. Muscle computed tomography in adult-onset acid maltase deficiency. Muscle Nerve 1998;21:398-400. 13) Pitts MW, Hoffmann PR. Endoplasmic reticulum-resident selenoproteins as regulators of calcium signaling and homeostasis. Cell Calcium 2018;70:76-86. 1) Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011;76:2073-2078. 6) Jungbluth H. Multi-minicore disease. Orphanet J Rare Dis 2007;2:31. 7) Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 1973;66:219-220. 8) Clarke NF, Kidson W, Quijano-Roy S, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006;59:546-552. 2) ポンペ病診療ガイドライン作成委員会編．ポンペ病診療ガイドライン2017．東京：診断と治療社；2018. 5) Castets P, Lescure A, Guicheney P, et al. Selenoprotein N in skeletal muscle: from disease to function. J Mol Med 2012;90:1095-1107. 10) Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI. Neuromusdul Disord 2012;22:S42-S53. 9) Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve 2017;56:881-886. 3) Takano H, Ishihara T, Kosuga M, et al. A senile case of late-onset Pompe’s disease. Intern Med 2016;55:2723-2725. |
| References_xml | – reference: 7) Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 1973;66:219-220. – reference: 4) de Jager AE, van der Vliet TM, van der Ree TC, et al. Muscle computed tomography in adult-onset acid maltase deficiency. Muscle Nerve 1998;21:398-400. – reference: 6) Jungbluth H. Multi-minicore disease. Orphanet J Rare Dis 2007;2:31. – reference: 9) Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve 2017;56:881-886. – reference: 12) Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749. – reference: 1) Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011;76:2073-2078. – reference: 8) Clarke NF, Kidson W, Quijano-Roy S, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006;59:546-552. – reference: 11) Hankiewicz K, Carlier RY, Lazaro L, et al. Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve 2015;52:728-735. – reference: 13) Pitts MW, Hoffmann PR. Endoplasmic reticulum-resident selenoproteins as regulators of calcium signaling and homeostasis. Cell Calcium 2018;70:76-86. – reference: 5) Castets P, Lescure A, Guicheney P, et al. Selenoprotein N in skeletal muscle: from disease to function. J Mol Med 2012;90:1095-1107. – reference: 10) Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI. Neuromusdul Disord 2012;22:S42-S53. – reference: 2) ポンペ病診療ガイドライン作成委員会編．ポンペ病診療ガイドライン2017．東京：診断と治療社；2018. – reference: 3) Takano H, Ishihara T, Kosuga M, et al. A senile case of late-onset Pompe’s disease. Intern Med 2016;55:2723-2725. |
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| Snippet | 症例は71歳女性．II型呼吸不全の原因精査のため当科に入院した．60歳代後半から体幹の筋力低下に気づいていたが，日常生活は自立していた．両親がいとこ婚で姉に類... |
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| SubjectTerms | II型呼吸不全 selenoprotein関連ミオパチー ポンぺ病 先天性ミオパチー 選択的筋萎縮 |
| Title | 高齢発症のII型呼吸不全を契機に診断されたselenoprotein関連ミオパチーの1例 |
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