Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients

Neurology

Volumn 76, Issue 3, 2011, Pages 227-235

  Durmus, H ^a   Laval, S H ^b   Deymeer, F ^a   Parman, Y ^a   Kiyan, E ^a   Gokyigiti, M ^c   Ertekin, C ^d   Ercan, I ^c   Solakoglu, S ^a   Karcagi, V ^e   Straub, V ^b   Bushby, K ^b   Lochmuller H ^b   Serdaroglu Oflazer, P ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^d EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^e NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE;

ADOLESCENT; ADULT; AGED; ARM MUSCLE; ARTICLE; AUTOPHAGY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BREATHING MUSCLE; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DISTAL MYOPATHY; DYSPHAGIA; ELECTROMYOGRAM; EXTRAOCULAR MUSCLE; FEMALE; FOLLOW UP; GENE LOCUS; GENETIC LINKAGE; HUMAN; LEG MUSCLE; LIMB WEAKNESS; LONG TERM CARE; MALE; MUSCLE WEAKNESS; OCULOPHARYNGODISTAL MYOPATHY; PHARYNGEAL MUSCLE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD;

EID: 78751620472     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318207b043     Document Type: Article

References (27)

1. Satoyoshi E, Kinoshita M. Oculopharyngodistal myop-athy: report of four families. Arch Neurol 1977;34:89-92.
2. Uyama E, Uchino M, Chateau D, Tomé FM. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord 1998;8:119-125.
3. Jaspar HH, Bastiaensen LA, ter Laak HJ, Joosten EM, Horstink MW, Stadhouders AM. Oculopharyngodistal myopathy with early onset and neurogenic features. Clin Neurol Neurosurg 1977;80:272-282.
4. Scrimgeour EM, Mastaglia FL. Oculopharyngeal and distal myopathy: a case study from Papua New Guinea. Am J Med Genet 1984;17:763-771.
5. Goto I, Kanazawa Y, Kobayashi T, Murai Y, Kuroiwa Y. Oculopharyngeal myopathy with distal and cardiomyopa-thy. J Neurol Neurosurg Psychiatry 1977;40:600-607.
6. Amato AA, Jackson C, Ridings L, Barohn R. Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. Muscle Nerve 1995;18:842-847.
7. Uyama E, Uchino M, Chateau D, Tomé FM. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord 1998;8:119-125.
8. Minami N, Ikezoe K, Kuroda H, Nakabayashi H, Satoyo-shi E, Nonaka I. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. Neuromuscul Dis-ord 2001;11:699-702.
9. Van der Sluijs BM, ter Laak HJ, Scheffer H, van der Maarel SM, van Engelen BG. Autosomal recessive oculo-pharyngodistal myopathy: a distinct phenotypical, histo-logical, and genetic entity. J Neurol Neurosurg Psychiatry 2004;75:1499-1501.
10. Witoonpanich R, Phankhian S, Sura T, Lertrit P, Phudhi-chareonrat S. Oculopharyngodistal myopathy in a Thai family. J Med Assoc Thai 2004;87:1518-1521.
11. Lu H, Luan X, Yuan Y, Dong M, Sun W, Yan C. The clinical and myopathological features of oculopharyngo-distal myopathy in a Chinese family. Neuropathology 2008;28:599-603.
12. Ertekin C, Aydogdu I, Yuceyar N, Kiylioglu N, Tarlaci S, Uludag B. Pathophysiological mechanisms of oropharyn-geal dysphagia in amyotrophic lateral sclerosis. Brain 2000; 23:125-140.
13. Ertekin C, Aydogdu I, Yuceyar N. Piecemeal deglutition and dysphagia limit in normal subjects and in patients with swallowing disorders. J Neurol Neurosurg Psychiatry 1996;61:491-496.
14. Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-167.
15. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002;30:97-101.
16. Kaplan JC. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul Disord 2009; 19:77-98.
17. Van der Beek NA, Hagemans ML, Reuser AJ, et al. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord 2009; 19:113-117.
18. Moghadaszadeh B, Topaloglu H, Merlini L, et al. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. Neuromuscul Disord 1999;9:376-382.
19. Chinnery PF, Johnson MA, Walls TJ, et al. A novel auto-somal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol 2001;49: 443-452.
20. Malicdan MC, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008;56:314-324.
21. Ikuya N, Satoru N, Ichizo N. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep 2005;5:61-65.
22. Hill ME, Creed GA, McMullan TF, et al. Oculopharyn-geal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001;124:522-526.
23. Becher MW, Morrison L, Davis LE, et al. Oculopharyn-geal muscular dystrophy in Hispanic New Mexicans. JAMA 2001;286:2437-2440.
24. Blumen SC, Brais B, Korczyn AD, et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol 1999;46:115-118.
25. Nakashima D, Nakajima H, Ishida S, Sugino M, Kimura F, Hanafusa T. Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion. Rinsho Shinkeigaku 2003;43:560-563.
26. Jones KJ, North KN. External ophthalmoplegia in neuro-muscular disorders: case report and review of the literature. Neuromuscul Disord 1997;7:143-151.
27. Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neu-romuscul Disord 1991;1:231-234.