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

Alonso‐Jiménez, Alicia; Kroon, Rosemarie H.M.J.M.; Alejaldre-Monforte, A.; Nuñez‐Peralta, Claudia; Horlings, Corinne G.C.; Engelen, B.G.M. van; Olivé, Montse; González, Laura; Verges-Gil, Enric; Paradas, Carmen; Márquez, Cristina; Garibaldi, Matteo; Gallano, P.; Rodrí­guez, Marí­a José; González-Quereda, L.; Domínguez‐González, Cristina; Vissing, John; Fornander, Freja; Eisum, Anne-Sofie Vibæk; García-Sobrino, Tania; Pardo, Julio; García‐Figueiras, Roberto; Muelas, Nuria; Vilchez, Juan J.; Kapetanovic, Solange; Tasca, Giorgio; Monforte, Mauro; Ricci, Enzo; Gómez, María Teresa Anderson; Bevilacqua, Jorge A.; Diaz-Jara, Jorge; Zamorano, Ivonne Ingrid; Carlier, Robert; Laforêt, Pascal; Pelayo‐Negro, Ana L.; Ramos‐Fransí, Alba; Martinez, A. L.; Marini‐Bettolo, Chiara; Straub, Volker; Gutiérrez, Gerardo; Stojkovic, Tanya; Martín, María Asunción; Morís, Germán; Fernández‐Torrón, Roberto; Munáin, Adolfo López de; Cortés-Vicente, Elena; Querol, Luís; Rojas‐García, Ricardo; Illa, Isabel; Díaz‐Manera, Jordi

doi:10.1136/jnnp-2018-319578

Cited by 39 publications

(33 citation statements)

References 41 publications

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“…The hierarchical clustering of patients and muscles generated according to the scores given to the single muscles (Fig. 3) confirmed that the degree of heterogeneity was higher than that observed in other muscular dystrophies [32,33] but still a trend of susceptibility or resistance to pathology could be identified for most of the muscles.…”

Section: Resultssupporting

confidence: 58%

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Giacomucci

Monforte

Díaz-Manera

et al. 2020

Euro J of Neurology

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Background and purpose The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. Methods Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1‐weighted and short‐tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. Results The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro‐caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. Conclusion This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD‐related disease spectrum.

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Section: Resultssupporting

confidence: 58%

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Giacomucci

Monforte

Díaz-Manera

et al. 2020

Euro J of Neurology

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“…In our case, muscle MRI and an extensive ultrasound examination led us to suspect OPMD. Regarding muscle selectivity, previous studies revealed that tongue, hamstring, and calf muscles were mainly affected in patients with OPMD with a short expansion of GCN, which contrasts with the quadriceps-dominant pattern seen in inclusion body myositis [ 6 , 7 ]. We confirmed that OPMD patients with point mutation also exhibited the same pattern of muscle impairment as those with repeat expansion.…”

Section: Discussionmentioning

confidence: 99%

“…OPMD with PABPN1 mutation is distributed worldwide, and some cases have also been reported in East Asians [ 1 – 5 ]. Muscle MRI studies have revealed that a pattern of tongue, hamstring, and calf muscle involvement could be considered characteristic of OPMD [ 6 , 7 ]. In 2005, Robinson and colleagues were the first to report that OPMD was caused by a c.35G > C point mutation in the PABPN1 gene, which resulted in p.Gly12Ala amino acid substitution and an increase in the number of contiguous polyalanine codons mimicking the PABPN1 triplet repeat effect [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

et al. 2021

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Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in PABPN1 gene. Case presentation A 78-year-old woman presented with ptosis and gradually progressive dysphagia. Her son had the same symptoms. A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. Needle-electromyography (EMG) of bulbar and facial muscles revealed a myopathic pattern. Based on the characteristic muscle involvement pattern and needle-EMG findings, we suspected that the patient had OPMD. Gene analysis revealed PABPN1 c.35G > C point mutation, which mimicked the effect of a common causative repeat expansion mutation of OPMD. Conclusion We herein describe the first reported Japanese case of OPMD with PABPN1 point mutation, suggesting that this mutation is causative in Asians as well as in Europeans, in whom it was originally reported.

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“…Here we have confirmed these previous results, but we have also found a good correlation between fat replacement and results of respiratory muscle function tests. It has been previously shown that the degree of fat replacement in a muscle correlates with results of specific function tests including assessment of muscle strength using handheld dynamometry or even assessment of muscle performance using timed tests such as the 6-min walking test (18)(19)(20). Accordingly, it is not surprising that fat replacement of the diaphragm or of the accessory respiratory muscles, such as thoracic muscles, has a good correlation with FVC.…”

Section: Discussionmentioning

confidence: 99%

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

et al. 2021

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Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. Previous studies have shown that replacement by fat correlates with worse results of muscle function tests. Our aim was to investigate if fat replacement of muscles involved in the ventilation process correlated with results of the spirometry and predicted respiratory muscle impairment in LOPD patients over time.Materials and Methods: We studied a cohort of 36 LOPD patients followed up annually in our center for a period of 4 years. We quantified muscle fat replacement using Mercuri score of the thoracic paraspinal and abdominal muscles and the pillars of the diaphragm. We correlated the combined Mercuri scores of these areas with spirometry results and the need of respiratory support.Results: We found a statistically significant correlation (Spearman test, p < 0.05; coefficient of correlation > 0.6) between forced vital capacity seated and lying and fat fraction score of all muscle groups studied. The group of patients who needed respiratory support had higher fat fraction scores than patients not requiring ventilatory support. Higher fat replacement in these areas correlated with worse progression in spirometry values over time.Conclusions: Fat replacement of paraspinal, abdominal, and trunk muscles correlates with results of spirometry and is able to predict worsening in respiratory muscle function tests that could lead to an emerging ventilatory dysfunction. Therefore, the identification of fat replacement in these muscle groups should lead to a closer monitorization of patients. Radiologic evaluation of diaphragm pillars in T1-weighted imaging axial sequences could also be helpful to predict respiratory insufficiency.

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

Cited by 39 publications

References 41 publications

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

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