title: Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.
abstract: OBJECTIVE
  Oculopharyngeal muscular dystrophy (OPMD) is mostly an autosomal dominant myopathic disorder, characterized by progressive bilateral ptosis, dysphagia and proximal muscle weakness, appearing usually in the fifth to sixth decade of life. The underlying cause of OPMD is an expanded GCG repeat in the first exon of the gene encoding poly (A)-binding protein nuclear 1 (PABPN1) localized on chromosome 14.q11.2-q13. The number of GCG expansion ranges from 8 to 13 repeats. PABPN1 is a nuclear multifunctional protein which is involved in transcription regulation and post-transcriptional processes.
  
  
  METHODS
  We report on clinical characteristics in 9 Polish patients with genetically confirmed OPMD.
  
  
  RESULTS
  The expanded repeat ranged from (GCG)8 to (GCG)11. Ptosis and dysphagia were present in all examined cases. In 4 patients weakness of extraocular muscle was found and two of them experienced transient diplopia. Mild limb-girdle weakness was observed in 6 patients. Muscle biopsy performed in all cases showed myopathic changes with rare rimmed vacuoles. Strikingly, despite thorough examination on electron microscopy, intranuclear inclusions typical for OPMD were found only in one patient.
  
  
  CONCLUSIONS
  Genetic testing is necessary to confirm the diagnosis of OPMD, especially in cases with ptosis and external ophthalmoparesis, which may be initially diagnosed as mitochondrial myopathy.
authors.affiliation: Katedra i Klinika Neurologii WUM w Warszawie, Samodzielny Publiczny Centralny Szpital Kliniczny, ul. Banacha 1a, 02-097 Warszawa.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Nadaj-Pakleza
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Anna
authors.initials: A
authors.lastname: Lusakowska
authors.forename: Joanna
authors.initials: J
authors.lastname: Gajewska
authors.forename: Zygmunt
authors.initials: Z
authors.lastname: Jamrozik
authors.forename: Anna
authors.initials: A
authors.lastname: Kostera-Pruszczyk
authors.forename: Hubert
authors.initials: H
authors.lastname: Kwieciński
authors.forename: Anna
authors.initials: A
authors.lastname: Kamińska
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D002467:Cell Nucleus / Q000648:ultrastructure; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005838:Genotype; D006801:Humans; D045586:Intranuclear Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000175:diagnosis; D018482:Muscle, Skeletal / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D039122:Poly(A)-Binding Protein I / Q000235:genetics
chemical_list: D039122:Poly(A)-Binding Protein I