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Case Report

Atypical Miyoshi distal myopathy: A case report

  • Authors:
    • Meiling Wang
    • Yujie Guo
    • Yong Fu
    • Rui Jia
    • Gang Chen
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, P.R. China, Department of Interventional Radiology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, P.R. China
  • Pages: 3068-3072
    |
    Published online on: September 20, 2016
       https://doi.org/10.3892/etm.2016.3716
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Abstract

Five distinct predominant distal myopathies have been identified with discrete clinical and genetic patterns. Miyoshi myopathy (MM; early adult‑onset, type 2) is a subtype of dysferlinopathy. Furthermore, MM is the most common form of autosomal recessive distal myopathy. MM is typically characterized by muscular weakness, initially affecting the gastrocnemius or soleus muscle from the late teens or early adulthood. The present study reports a case of MM that was confirmed by pathological and immunohistochemical methods, in addition to a review of the relevant literature. A 37‑year‑old male patient presented with muscular weakness in the left foot. This clinical manifestation was not typical of MM, and the patient was initially diagnosed with inflammatory myopathy. He was treated with dexamethasone at a dose of 10 mg for 5 days followed by gradual tapering, following which the symptoms were alleviated; however, the pathology, immunohistochemistry and electromyography eventually confirmed the diagnosis of MM. The treatment was then terminated and the patient was discharged. The present study further supports the underlying heterogeneity in atypical MM‑like phenotypes. Dysferlin protein deficiency can be identified by pathological examination. The pathology of dysferlinopathy is characterized by changes of muscular dystrophy. Inflammatory cellular infiltration is a relatively common finding in the muscle biopsies from numerous patients with dysferlinopathy. Therefore, the detection of dysferlin deficiency or marked reduction on the sarcolemma using immunohistochemical staining is important for the diagnosis of dysferlinopathy.
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1 

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D and Wrogemann K: Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet. 59:872–878. 1996.PubMed/NCBI

2 

Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, et al: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 20:31–36. 1998. View Article : Google Scholar : PubMed/NCBI

3 

Nonaka I: Distal myopathies. Curr Opin Neurol. 12:493–499. 1999. View Article : Google Scholar : PubMed/NCBI

4 

Mastaglia FL, Lamont PJ and Laing NG: Distal myopathies. Curr Opin Neurol. 18:504–510. 2005. View Article : Google Scholar : PubMed/NCBI

5 

Miyoshi K, Kawai H, Iwasa M, Kusaka K and Nishino H: Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain. 109:31–54. 1986. View Article : Google Scholar : PubMed/NCBI

6 

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I and Hayashi YK: Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci. 211:23–28. 2003. View Article : Google Scholar : PubMed/NCBI

7 

Oh SH, Kang SW, Lee JG, Na SJ, Kim TS and Choi YC: Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. J Korean Med Sci. 19:447–452. 2004. View Article : Google Scholar : PubMed/NCBI

8 

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR and Zatz M: Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci. 17:71–80. 2001. View Article : Google Scholar : PubMed/NCBI

9 

Sun SC, Fan ZS, Wu HC, Leturcq F, Zhang BF, Yu W, Deburgrave N, Liu M and Song YJ: Dysferlin deficiency: The cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 21:128–131. 2004.(In Chinese). PubMed/NCBI

10 

Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J and Rowland LP: Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 45:768–772. 1995. View Article : Google Scholar : PubMed/NCBI

11 

Bashlr R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L and Bushby KM: A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 3:455–457. 1994. View Article : Google Scholar : PubMed/NCBI

12 

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, et al: Muscular dystrophy due to dysferlin deficiency in Libyan Jews Clinical and genetic features. Brain. 123:1229–1237. 2000. View Article : Google Scholar : PubMed/NCBI

13 

Barohn RJ, Amato AA and Griggs RC: Overview of distal myopathies: From the clinical to the molecular. Neuromuscul Disord. 8:309–316. 1998. View Article : Google Scholar : PubMed/NCBI

14 

Park HJ, Hong JM, Suh GI, Shin HY, Kim SM, Sunwoo IN, Suh BC and Choi YC: Heterogeneous characteristics of Korean patients with dysferlinopathy. J Korean Med Sci. 27:423–429. 2012. View Article : Google Scholar : PubMed/NCBI

15 

Miyoshi K, Kawai H, Iwasa M, Kusaka K and Nishino H: Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain. 109:31–54. 1986. View Article : Google Scholar : PubMed/NCBI

16 

Wang M, Zuo YW, Lu Y, Xu M, Liu Z and Jia JP: Clinical and pathological features of Miyoshi myopathy with dysferlin protein deficient. Lin Chuang Shen Jing Bing Xue Za Zhi. 22:16–18. 2009.(In Chinese).

17 

Zhang LR, Hu J, Zhao Z, Li N, Shen HR and Bing Q: An analysis of clinical features and pathology in 40 patients with dysferlinopathy. Zhonghua Shen Jing Ge Za Zhi. 46:438–442. 2013.(In Chinese).

18 

Ueyama H, Kumamato T, Horinouchi H, Fujimoto S, Aono H and Tsuda T: Clinical heterogeneity in dysferlinopathy. Intern Med. 41:532–536. 2002. View Article : Google Scholar : PubMed/NCBI

19 

Barohn RJ, Miller RG and Griggs RC: Autosomal recessive distal dystrophy. Neurology. 41:1365–1370. 1991. View Article : Google Scholar : PubMed/NCBI

20 

Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, et al: Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology. 57:271–278. 2001. View Article : Google Scholar : PubMed/NCBI

21 

Galassi G, Rowland LP, Hays AP, Dimauro S and Hopkins LC: High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy. Muscle Nerve. 10:346–350. 1987. View Article : Google Scholar : PubMed/NCBI

22 

Linssen WH, Notermans NC, Van der Graaf Y, Wokke JH, Van Doorn PA, Höweler CJ, Busch HF, De Jager AE and De Visser M: Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain. 120:1989–1996. 1997. View Article : Google Scholar : PubMed/NCBI

23 

Gayathri N, Alefia R, Nalini A, Yasha TC, Anita M, Santosh V and Shankar SK: Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue. Indian J Pathol Microbiol. 54:350–354. 2011. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Wang M, Guo Y, Fu Y, Jia R and Chen G: Atypical Miyoshi distal myopathy: A case report. Exp Ther Med 12: 3068-3072, 2016.
APA
Wang, M., Guo, Y., Fu, Y., Jia, R., & Chen, G. (2016). Atypical Miyoshi distal myopathy: A case report. Experimental and Therapeutic Medicine, 12, 3068-3072. https://doi.org/10.3892/etm.2016.3716
MLA
Wang, M., Guo, Y., Fu, Y., Jia, R., Chen, G."Atypical Miyoshi distal myopathy: A case report". Experimental and Therapeutic Medicine 12.5 (2016): 3068-3072.
Chicago
Wang, M., Guo, Y., Fu, Y., Jia, R., Chen, G."Atypical Miyoshi distal myopathy: A case report". Experimental and Therapeutic Medicine 12, no. 5 (2016): 3068-3072. https://doi.org/10.3892/etm.2016.3716
Copy and paste a formatted citation
x
Spandidos Publications style
Wang M, Guo Y, Fu Y, Jia R and Chen G: Atypical Miyoshi distal myopathy: A case report. Exp Ther Med 12: 3068-3072, 2016.
APA
Wang, M., Guo, Y., Fu, Y., Jia, R., & Chen, G. (2016). Atypical Miyoshi distal myopathy: A case report. Experimental and Therapeutic Medicine, 12, 3068-3072. https://doi.org/10.3892/etm.2016.3716
MLA
Wang, M., Guo, Y., Fu, Y., Jia, R., Chen, G."Atypical Miyoshi distal myopathy: A case report". Experimental and Therapeutic Medicine 12.5 (2016): 3068-3072.
Chicago
Wang, M., Guo, Y., Fu, Y., Jia, R., Chen, G."Atypical Miyoshi distal myopathy: A case report". Experimental and Therapeutic Medicine 12, no. 5 (2016): 3068-3072. https://doi.org/10.3892/etm.2016.3716
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