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J Neurol Neurosurg Psychiatry. 2018 Dec 8. pii: jnnp-2018-319578. doi: 10.1136/jnnp-2018-319578. [Epub ahead of print]

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Author information

1
Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.
2
Rehabilitation Department, Radboud University Medical Center, Nijmegen, The Netherlands.
3
Neurology Department, Hospital de Sant Joan Despí Moisès Broggi, Barcelona, Spain.
4
Radiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
5
Neurology Department, Radboud university Medical Center, Nijmegen, The Netherlands.
6
Pathology Department (Neuropathology), Neuromuscular Disorders Unit, IDIBELL, Hospital de Bellvitge, Barcelona, Spain.
7
Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
8
Neuromuscular Disorders Unit, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Ospedale Sant'Andrea, Rome, Italy.
9
Genetic Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
10
Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
11
Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
12
Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
13
Neurology Department, Hospital Clínico, Santiago de Compostela, Spain.
14
Radiology Department, Hospital Clínico, Santiago de Compostela, Spain.
15
Neuromuscular Research Unit, Neurology Department, Instituto de Investigación Sanitaria la Fe, Hospital Universitari i Politécnic La Fe, Valencia, Spain.
16
Neurology Department, Hospital de Basurto, Bilbao, Spain.
17
Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A, Gemelli IRCCS, Roem, Italy.
18
Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.
19
Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.
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
Centro de imagenología, Hospital Clínico Universidad de Chile, Universidad de Chile, Santiago, Chile.
22
Servicio de Neurología, Hospital de Puerto Montt, Servicio de Salud del Reloncavi, Los Lagos Region, Chile.
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
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
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
Neurology Department, Hospital Germans Trias I Pujol, Barcelona, Spain.
27
Neurology Department, Hospital Galdakao, Vizkaia, Spain.
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
Neurology Department, Hospital Infanta Sofía, San Sebastián de los Reyes, Spain.
30
Neurology Department, Complejo asistencial hospitalario de Burgos, Burgos, Spain.
31
Neurology Department, Hospital Universitario Central de Asturias, Asturias, Spain.
32
Neurology Department, Hospital Donostia, San Sebastián, Spain.
33
Neuromuscular Area, Neurology Service, Biodonostia Health Research Institute, Donostia University Hospital, Donostia-San Sebastián, Spain.
34
Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain jdiazm@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.

KEYWORDS:

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

PMID:
30530568
DOI:
10.1136/jnnp-2018-319578

Conflict of interest statement

Competing interests: None declared.

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