上肢の筋肥大を呈した成人発症calpainopathyの孤発男性例
症例は33歳男性．16歳時に健診で血清CK上昇を指摘され，25歳頃から緩徐進行性の下肢筋力低下が出現した．身体診察では翼状肩甲，腰椎前弯の増強，アキレス腱の拘縮，近位筋優位の四肢筋力低下を認め，Gowers徴候は陽性であった．筋肥大は上腕二頭筋や前腕屈筋群においてみられた．筋生検では筋線維の大小不同，再生・壊死線維を認め，calpain3発現が低下していた．遺伝子解析にてCAPN3遺伝子に既知の二つの遺伝子変異を認めたためcalpainopathy（肢帯型筋ジストロフィー limb girdle muscular dystrophy 2A; LGMD2A）と診断した．上肢の筋肥大は下肢に比べ注...
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| Published in | 臨床神経学 Vol. 59; no. 11; pp. 740 - 745 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2019
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001330 |
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| Abstract | 症例は33歳男性．16歳時に健診で血清CK上昇を指摘され，25歳頃から緩徐進行性の下肢筋力低下が出現した．身体診察では翼状肩甲，腰椎前弯の増強，アキレス腱の拘縮，近位筋優位の四肢筋力低下を認め，Gowers徴候は陽性であった．筋肥大は上腕二頭筋や前腕屈筋群においてみられた．筋生検では筋線維の大小不同，再生・壊死線維を認め，calpain3発現が低下していた．遺伝子解析にてCAPN3遺伝子に既知の二つの遺伝子変異を認めたためcalpainopathy（肢帯型筋ジストロフィー limb girdle muscular dystrophy 2A; LGMD2A）と診断した．上肢の筋肥大は下肢に比べ注目されにくいが，それらを念頭に置いた診察が重要である． |
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| AbstractList | 症例は33歳男性．16歳時に健診で血清CK上昇を指摘され，25歳頃から緩徐進行性の下肢筋力低下が出現した．身体診察では翼状肩甲，腰椎前弯の増強，アキレス腱の拘縮，近位筋優位の四肢筋力低下を認め，Gowers徴候は陽性であった．筋肥大は上腕二頭筋や前腕屈筋群においてみられた．筋生検では筋線維の大小不同，再生・壊死線維を認め，calpain3発現が低下していた．遺伝子解析にてCAPN3遺伝子に既知の二つの遺伝子変異を認めたためcalpainopathy（肢帯型筋ジストロフィー limb girdle muscular dystrophy 2A; LGMD2A）と診断した．上肢の筋肥大は下肢に比べ注目されにくいが，それらを念頭に置いた診察が重要である． |
| Author | 鈴木, 圭輔 藤田, 裕明 平田, 幸一 西野, 一三 中村, 利生 濱口, 眞衣 |
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| References | 2) Feng X, Luo S, Li J, et al. Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. Muscle Nerve 2018;58:536-541. 4) Wicklund MP, Kissel JT. The limb-girdle muscular dystrophies. Neurol Clin 2014;32:729-749, ix. 1) Khadilkar SV, Patel BA, Lalkaka JA. Making sense of the clinical spectrum of limb girdle muscular dystrophies. Pract Neurol 2018;18:201-210. 5) Gallardo E, Saenz A, Illa I. Limb-girdle muscular dystrophy 2A. Handb Clin Neurol 2011;101:97-110. 19) Witting N, Duno M, Vissing J. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul Disord 2013;23:25-28. 8) Kramerova I, Beckmann JS, Spencer MJ. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007;1772:128-144. 9) Richard I, Hogrel JY, Stockholm D, et al. Natural history of LGMD2A for delineating outcome measures in clinical trials. Ann Clin Transl Neurol 2016;3:248-265. 7) Groen EJ, Charlton R, Barresi R, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain 2007;130:3237-3249. 17) Nalini A, Govindaraju C, Kalra P, et al. Hoffmann’s syndrome with unusually long duration: report on clinical, laboratory and muscle imaging findings in two cases. Ann Indian Acad Neurol 2014;17:217-221. 18) Walters J. Muscle hypertrophy and pseudohypertrophy. Pract Neurol 2017;17:369-379. 13) Bradley WG, Jones MZ, Mussini JM, et al. Becker-type muscular dystrophy. Muscle Nerve 1978;1:111-132. 11) Varkey B, Varkey L. Muscle hypertrophy in myotonia congenita. J Neurol Neurosurg Psychiatry 2003;74:338. 12) Chapin JE, Kornfeld M, Harris A. Amyloid myopathy: characteristic features of a still underdiagnosed disease. Muscle Nerve 2005;31:266-272. 6) Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 2018;58:167-177. 16) Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008;82:88-99. 14) Khadilkar SV, Singh RK, Kulkarni KS, et al. A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy. J Clin Neuromuscul Dis 2004;6:1-8. 21) Cros D, Harnden P, Pellissier JF, et al. Muscle hypertrophy in Duchenne muscular dystrophy. A pathological and morphometric study. J Neurol 1989;236:43-47. 20) Paradas C, Llauger J, Diaz-Manera J, et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010;75:316-323. 10) Senanayake HM, Dedigama AD, de Alwis RP, et al. Hoffmann syndrome: a case report. Int Arch Med 2014;7:2. 3) Chae J, Minami N, Jin Y, et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord 2001;11:547-555. 22) Fanin M, Angelini C. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: the yield and the pitfalls. Muscle Nerve 2015;52:163-173. 15) Gamez J, Armstrong J, Shatunov A, et al. Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? J Neurol Sci 2009;277:167-171. |
| References_xml | – reference: 3) Chae J, Minami N, Jin Y, et al. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscul Disord 2001;11:547-555. – reference: 6) Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 2018;58:167-177. – reference: 14) Khadilkar SV, Singh RK, Kulkarni KS, et al. A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy. J Clin Neuromuscul Dis 2004;6:1-8. – reference: 8) Kramerova I, Beckmann JS, Spencer MJ. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007;1772:128-144. – reference: 10) Senanayake HM, Dedigama AD, de Alwis RP, et al. Hoffmann syndrome: a case report. Int Arch Med 2014;7:2. – reference: 13) Bradley WG, Jones MZ, Mussini JM, et al. Becker-type muscular dystrophy. Muscle Nerve 1978;1:111-132. – reference: 4) Wicklund MP, Kissel JT. The limb-girdle muscular dystrophies. Neurol Clin 2014;32:729-749, ix. – reference: 15) Gamez J, Armstrong J, Shatunov A, et al. Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? J Neurol Sci 2009;277:167-171. – reference: 2) Feng X, Luo S, Li J, et al. Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. Muscle Nerve 2018;58:536-541. – reference: 7) Groen EJ, Charlton R, Barresi R, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain 2007;130:3237-3249. – reference: 17) Nalini A, Govindaraju C, Kalra P, et al. Hoffmann’s syndrome with unusually long duration: report on clinical, laboratory and muscle imaging findings in two cases. Ann Indian Acad Neurol 2014;17:217-221. – reference: 19) Witting N, Duno M, Vissing J. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul Disord 2013;23:25-28. – reference: 9) Richard I, Hogrel JY, Stockholm D, et al. Natural history of LGMD2A for delineating outcome measures in clinical trials. Ann Clin Transl Neurol 2016;3:248-265. – reference: 11) Varkey B, Varkey L. Muscle hypertrophy in myotonia congenita. J Neurol Neurosurg Psychiatry 2003;74:338. – reference: 12) Chapin JE, Kornfeld M, Harris A. Amyloid myopathy: characteristic features of a still underdiagnosed disease. Muscle Nerve 2005;31:266-272. – reference: 16) Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008;82:88-99. – reference: 18) Walters J. Muscle hypertrophy and pseudohypertrophy. Pract Neurol 2017;17:369-379. – reference: 21) Cros D, Harnden P, Pellissier JF, et al. Muscle hypertrophy in Duchenne muscular dystrophy. A pathological and morphometric study. J Neurol 1989;236:43-47. – reference: 5) Gallardo E, Saenz A, Illa I. Limb-girdle muscular dystrophy 2A. Handb Clin Neurol 2011;101:97-110. – reference: 22) Fanin M, Angelini C. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: the yield and the pitfalls. Muscle Nerve 2015;52:163-173. – reference: 1) Khadilkar SV, Patel BA, Lalkaka JA. Making sense of the clinical spectrum of limb girdle muscular dystrophies. Pract Neurol 2018;18:201-210. – reference: 20) Paradas C, Llauger J, Diaz-Manera J, et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010;75:316-323. |
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| Title | 上肢の筋肥大を呈した成人発症calpainopathyの孤発男性例 |
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