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Oculopharyngeal Muscular Dystrophy

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Neuromuscular Disorders

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Abstract

Oculopharyngeal muscular dystrophy (OPMD) presents with ptosis and dysphagia in the fifth or sixth decade of life. The transmission is autosomal dominant and the course is slowly progressive; patients can go on to develop limb weakness later in the illness. Histology shows rimmed vacuoles and tubulofilamentous inclusions in the nuclei. Treatment is largely supportive.

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References

  • Abu-Baker A, Rouleau GA. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim Biophys Acta. 2007;1772:173–85.

    Article  CAS  PubMed  Google Scholar 

  • Blumen SC, Nisipeanu P, Sadeh M, Asherov A, Blumen N, Wirguin Y, et al. Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul Disord. 1997;71:S38–40.

    Article  Google Scholar 

  • Bouchard JP, Brais B, Brunet D, Gould PV, Rouleau GA. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromuscul Disord. 1997;7(Suppl 1):S22–9.

    Article  PubMed  Google Scholar 

  • Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease, Cytogenet. Genome Res. 2003;100:252–60.

    Article  CAS  Google Scholar 

  • Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tome FM, Bouchard JP, Rouleau GA. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2–q13. Hum Mol Genet. 1995;4:429–34.

    Article  CAS  PubMed  Google Scholar 

  • Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18:164–7.

    Article  CAS  PubMed  Google Scholar 

  • Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM. Oculopharyngeal muscular dystrophy. Semin Neurol. 1999;19:59–66.

    Article  CAS  PubMed  Google Scholar 

  • Davies JE, Wang L, Garcia-Oroz L, Cook LJ, Vacher C, O'donovan DG, Rubinsztein DC. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med. 2005;6:672–7.

    Article  Google Scholar 

  • Duranceau A. Cricophryngeal myotomy in the management of neurogenic and muscular dysphagia. Neuromuscul Disord. 1997;7(suppl 1):S85–9.

    Article  PubMed  Google Scholar 

  • Isenberg DA, Kahn P. Familial late onset oculopharyngeal muscular dystrophy. Postgrad Med J. 1981;57:41–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Little WB, Perl DP. Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian Kindred. J Neurol Sci. 1982;53:145–58.

    Article  CAS  PubMed  Google Scholar 

  • Maksimova NR, Nikolaeva IA, Korotkov MN, Ikeuchi T, Onodera O, Nishizava M, et al. The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia). Zh Nevrol Psikhiatr Im S S Korsakova. 2008;108:52–60.

    CAS  PubMed  Google Scholar 

  • Mathieu J, Lapointe G, Brassard A, et al. A pilot study on upper esophageal sphincter dilation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscul Disord. 1997;7(suppl 1):S100–4.

    Article  PubMed  Google Scholar 

  • Rodrigue D, Molgat YM. Surgical correction of blepharoptosis in oculopharyngeal muscular dystrophy. Neuromuscul Disord. 1997;7(suppl 1):S82–4.

    Article  PubMed  Google Scholar 

  • Rüegg S, Lehky Hagen M, Hohl U, Kappos L, Fuhr P, Plasilov M, Hüller H, Heinimann K. Oculopharyngeal muscular dystrophy an underdiagnosed disorder? Swiss Med Wkly. 2005;135:574–86.

    PubMed  Google Scholar 

  • Sarkar AK, Biswas SK, Ghosh AK, Mitra P, Ghosh SK, Mathew J. Oculopharyngeal muscular dystrophy. Indian J Pediatr. 1995;62:496–8.

    Article  CAS  PubMed  Google Scholar 

  • Taylor WM. Progressive vagus-glossopharyngeal paralysis with ptosis. Contribution to group of family diseases. J Nerv Ment Dis. 1915;42:129–39.

    Article  Google Scholar 

  • Tomé F, Fardeau M. In: Engel AG, Franzini-Armstrong C, editors. Oculopharyngeal muscular dystrophy, myology, vol. 2. New York: McGraw-Hill; 1994. p. 1233–45.

    Google Scholar 

  • Tomé FM, Chateau D, Helbling-Leclerc A, Fardeau M. Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromuscul Disord. 1997a;7:S63–9.

    Article  PubMed  Google Scholar 

  • Tomé FMS, Chateau D, Helbling-Leclerc A, Fardeau M. Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromuscul Disord. 1997b;7(Suppl 1):S63–9.

    Article  PubMed  Google Scholar 

  • Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med. 1962;267:1267–72.

    Article  CAS  PubMed  Google Scholar 

  • Xu WZ. Relation between HLA and oculopharyngeal muscular dystrophy–study of a large family. Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1985;18:326–9.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India

    Satish V. Khadilkar

  2. Consultant Neurologist, Suyog Neurology Clinic, NH Multispeciality Hospital, Ahmedabad, Gujarat, India

    Rakhil S. Yadav

  3. Consultant Neurologist, TN Medical College and Nair Hospital, Mumbai, Maharashtra, India

    Bhagyadhan A. Patel

Authors
  1. Satish V. Khadilkar
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  2. Rakhil S. Yadav
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  3. Bhagyadhan A. Patel
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Khadilkar, S.V., Yadav, R.S., Patel, B.A. (2018). Oculopharyngeal Muscular Dystrophy. In: Neuromuscular Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-5361-0_17

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  • DOI: https://doi.org/10.1007/978-981-10-5361-0_17

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-5360-3

  • Online ISBN: 978-981-10-5361-0

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