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Research paper
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
  1. Alicia Alonso-Jimenez1,
  2. Rosemarie H.M.J.M. Kroon2,
  3. Aida Alejaldre-Monforte3,
  4. Claudia Nuñez-Peralta4,
  5. Corinne G C Horlings5,
  6. Baziel G M van Engelen5,
  7. Montse Olivé6,
  8. Laura González6,
  9. Enric Verges-Gil6,
  10. Carmen Paradas7,
  11. Celedonio Márquez7,
  12. Matteo Garibaldi8,
  13. Pía Gallano9,10,
  14. Maria José Rodriguez9,
  15. Lidia Gonzalez-Quereda9,10,
  16. Cristina Dominguez Gonzalez10,11,
  17. John Vissing12,
  18. Freja Fornander12,
  19. Anne-Sofie Vibæk Eisum12,
  20. Tania García-Sobrino13,
  21. Julio Pardo13,
  22. Roberto García-Figueiras14,
  23. Nuria Muelas10,15,
  24. Juan Jesús Vilchez10,15,
  25. Solange Kapetanovic16,
  26. Giorgio Tasca17,
  27. Mauro Monforte17,18,
  28. Enzo Ricci17,18,
  29. María Teresa Gomez19,
  30. Jorge Alfredo Bevilacqua20,
  31. Jorge Diaz-Jara21,
  32. Ivonne Ingrid Zamorano22,
  33. Robert Yves Carlier23,
  34. Pascal Laforet24,
  35. Ana Pelayo-Negro25,
  36. Alba Ramos-Fransi26,
  37. Amaia Martínez27,
  38. Chiara Marini-Bettolo28,
  39. Volker Straub28,
  40. Gerardo Gutiérrez29,
  41. María Asunción Martín30,
  42. Germán Morís31,
  43. Roberto Fernández-Torrón32,33,
  44. Adolfo Lopez De Munaín32,33,
  45. Elena Cortes-Vicente1,10,
  46. Luis Querol1,10,
  47. Ricardo Rojas-García1,10,
  48. Isabel Illa1,10,
  49. Jordi Diaz-Manera1,10
  1. 1 Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain
  2. 2 Rehabilitation Department, Radboud University Medical Center, Nijmegen, The Netherlands
  3. 3 Neurology Department, Hospital de Sant Joan Despí Moisès Broggi, Barcelona, Spain
  4. 4 Radiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  5. 5 Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands
  6. 6 Pathology Department (Neuropathology), Neuromuscular Disorders Unit, IDIBELL, Hospital de Bellvitge, Barcelona, Spain
  7. 7 Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Sevilla, Spain
  8. 8 Neuromuscular Disorders Unit, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Ospedale Sant'Andrea, Rome, Italy
  9. 9 Genetic Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  10. 10 Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain
  11. 11 Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain
  12. 12 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  13. 13 Neurology Department, Hospital Clínico, Santiago de Compostela, Spain
  14. 14 Radiology Department, Hospital Clínico, Santiago de Compostela, Spain
  15. 15 Neuromuscular Research Unit, Neurology Department, Instituto de Investigación Sanitaria la Fe, Hospital Universitari i Politécnic La Fe, Valencia, Spain
  16. 16 Neurology Department, Hospital de Basurto, Bilbao, Spain
  17. 17 Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A, Gemelli IRCCS, Roem, Italy
  18. 18 Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy
  19. 19 Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain
  20. 20 Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Programa de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago, Chile
  21. 21 Centro de imagenología, Hospital Clínico Universidad de Chile, Universidad de Chile, Santiago, Chile
  22. 22 Servicio de Neurología, Hospital de Puerto Montt, Servicio de Salud del Reloncavi, Los Lagos Region, Chile
  23. 23 Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France
  24. 24 Assistance Publique des Hôpitaux de Paris (AP-HP), Service de neurologie, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France
  25. 25 Neurology Department, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria, and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain
  26. 26 Neurology Department, Hospital Germans Trias I Pujol, Barcelona, Spain
  27. 27 Neurology Department, Hospital Galdakao, Vizkaia, Spain
  28. 28 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK
  29. 29 Neurology Department, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain
  30. 30 Neurology Department, Complejo asistencial hospitalario de Burgos, Burgos, Spain
  31. 31 Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain
  32. 32 Neurology Department, Hospital Donostia, San Sebastián, Spain
  33. 33 Neuromuscular Area, Neurology Service, Biodonostia Health Research Institute, Donostia University Hospital, Donostia-San Sebastián, Spain
  1. Correspondence to Dr Jordi Diaz-Manera, Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08025, Spain; jdiazm{at}santpau.cat

Abstract

Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.

Methods We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.

Results Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.

Conclusions We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.

  • muscle MRI
  • muscular dystrophy
  • oculopharyngeal muscular dystrophy
  • OPMD
  • outcome measures
  • registro español de enfermedades neuromusculares (NMD-ES)

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Footnotes

  • Contributors AA-J, AA-M, JD-M: Study design, acquisition and analysis of data, manuscript drafting, study coordination. CN-P, MTG, MJR, LG-Q: acquisition and analysis of data, article drafting. HMJMK, CGCH, BGMV-E, MO, LG, EV, CP, CM, MG, CD-G, JV, TFMF, A-SVE, TG-S, JP, RG-F, NM, JJV, SK, GT, MM, ER, MTG, JAB, JD-J, IIZ, RYC, PL, ALP-N, AR-F, AM, CM-B, VS, GG, MAM, GM, RF-T, AL-M, EC-V, LQ, RR-G, II: acquisition of data, drafting the paper.

  • Funding This study was partially funded by a grant from Fondo de Investigaciones Sanitarias (FISS) PI15/01822 (J.D-M) and by a grant FONDECYT 1151383 from the Comisión Nacional de Investigación Científica y Tecnológica of Chile (CONICYT) to JAB.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Ethics approval Ethics committee of Sant Pau Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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