Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Mercuri, Eugenio; Pichiecchio, Anna; Allsop, Joanna; Messina, Sonia; Pane, Marika; Muntoni, Francesco

doi:10.1002/jmri.20804

Cited by 370 publications

(293 citation statements)

References 36 publications

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“…15 In DMD, T1-weighted images show a progressive and selective pattern of involvement with fatty infiltration of the lower limb muscles when boys are older than 6 -7 years, 16,17 but correlative MRI-histologic studies are lacking. Our study was designed to ascertain the involvement of the EDB muscles in a population of boys with DMD using muscle MRI, and to obtain correlations between muscle MRI and histologic changes in a subset of these boys with DMD.…”

Section: Correlation Between Mri and Edb Histopathologicmentioning

confidence: 99%

Muscle histology vs MRI in Duchenne muscular dystrophy

Kinali¹,

Arechavala‐Gomeza²,

Çırak³

et al. 2011

Neurology

135

127

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Objective: There are currently no effective treatments to halt the muscle breakdown in Duchenne muscular dystrophy (DMD), although genetic-based clinical trials are being piloted. Most of these trials have as an endpoint the restoration of dystrophin in muscle fibers, hence requiring sufficiently well-preserved muscle of recruited patients. The choice of the muscles to be studied and the role of noninvasive methods to assess muscle preservation therefore require further evaluation. Methods:We studied the degree of muscle involvement in the lower leg muscles of 34 patients with DMD Ͼ8 years, using muscle MRI. In a subgroup of 15 patients we correlated the muscle MRI findings with the histology of open extensor digitorum brevis (EDB) muscle biopsies. Muscle MRI involvement was assigned using a scale 0-4 (normal-severe). Results:In all patients we documented a gradient of involvement of the lower leg muscles: the posterior compartment (gastrocnemius Ͼ soleus) was most severely affected; the anterior compartment (tibialis anterior/posterior, popliteus, extensor digitorum longus) least affected. Muscle MRI showed EDB involvement that correlated with the patient's age (p ϭ 0.055). We show a correlation between the MRI and EDB histopathologic changes, with MRI 3-4 grades associated with a more severe fibro-adipose tissue replacement. The EDB was sufficiently preserved for bulk and signal intensity in 18/22 wheelchair users aged 10-16.6 years. Conclusion:This study provides a detailed correlation between muscle histology and MRI changes in DMD and demonstrates the value of this imaging technique as a reliable tool for the selection of muscles in patients recruited into clinical trials. Neurology ® 2011;76:346-353 GLOSSARY AO ϭ antisense oligonucleotide; DMD ϭ Duchenne muscular dystrophy; EDB ϭ extensor digitorum brevis; KAFO ϭ knee-ankle-foot orthosis; NSA ϭ number of signal averages; TE ϭ echo time; TR ϭ repetition time.The progressive loss of muscle fibers and their replacement by fat and connective tissue is part of the disease course of DMD.1 Despite several exhaustive natural history studies on the clinical course of DMD, the progression of pathology in individual muscle groups is poorly defined. 2Information on muscle pathology in DMD is limited to the muscles that are biopsied at the time of diagnosis (often quadriceps femoris), 2 the mean age at diagnosis being ϳ4.5 years. 3,4 There are now early clinical trials using novel genetic-based techniques in boys with DMD with the aim to restore dystrophin expression. These include the drug PTC124, 5 which allows

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Section: Correlation Between Mri and Edb Histopathologicmentioning

confidence: 99%

Muscle histology vs MRI in Duchenne muscular dystrophy

Kinali¹,

Arechavala‐Gomeza²,

Çırak³

et al. 2011

Neurology

135

127

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“…Arpan, S.C. Forbes et al [15] used MRI to evaluate the skeletal muscles in boys with DMD diagnosis. It was aimed at researching and comparing changes in the lower leg muscle sections over a long period of time.…”

Section: N¹ 2 (88) 2017mentioning

confidence: 99%

“…Arpan, S.C. Forbes и соавт. [15] провели исследование с ис-пользованием МРТ для оценки скелетных мышц у мальчиков с диагнозом МДД. Оно было направлено на изучение и срав-нение изменений мышц нижних отделов ног в течение дли-тельного периода времени.…”

Section: N¹ 2 (88) 2017unclassified

“…Using ultrasound muscles in the evaluation of neuromuscular diseases started to gain interest by 1980 (Heckmatt, Dubowitz and Leeman, 1980 [6]; Heckmatt, Leeman and Dubowitz, 1982) [7]. This method is still used in the clinic to identify muscle damage (Mercuri et al, 2007) [12] and to assist in the selection of the muscle biopsy. However, the usefulness of ultrasound in skeletal muscle is limited by the fact that for this technique requires special training of specialists and not all muscles can be adequately assessed.…”

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confidence: 99%

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Методи Візуалізації М’язової Дистрофії Дюшенна (Літературний Огляд)

Руденко¹,

Pozdnyakov²,

Suslov³

2022

INJ

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Дана стаття присвячена літературному огляду методів візуалізації скелетних м’язів при м’язовій дистрофії Дюшенна. Проведено аналіз як історично значущих наукових робіт, так і останніх досягнень в галузі нейровізуалізації. У статті розглянуто такі методи, як ультразвукова діагностика, комп’ютерна та магнітно-резонансна томографія скелетних м’язів, а також магнітно-резонансна спектроскопія. Відзначено і обґрунтовано актуальність і перспективність неінвазивних, безпечних і об’єктивних методів оцінки скелетних м’язів при м’язовій дистрофії Дюшенна.

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“…Magnetic resonance imaging (MRI) has been widely used to evaluate in vivo the muscle alterations invarious neuromuscular disorders including FSHD [10][11][12]. The corresponding quantitative MRI (qMRI) indices have not been approved yet by the European Medical Agencies as surrogate outcome measures in clinical trials [11].…”

Section: Introductionmentioning

confidence: 99%

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

Salort‐Campana

Fatehi

Troter

et al. 2017

Neuromuscular Disorders

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Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various neuromuscular disorders. The main aim of the present study was to investigate longitudinally the time-dependent changes occurring in thigh muscles of FSHD patients using quantitative MRI and to assess the potential relationships with the clinical findings. Thirty-five FSHD1 patients (17 females) were enrolled. Clinical assessment tools including manual muscle testing using medical research council score (MRC), and motor function measure (MFM) were recorded each year for a period ranging from 1 to 2 years. For the MRI measurements, we used a new quantitative index, i.e., the mean pixel intensity (MPI) calculated from the pixel-intensity distribution in T1 weighted images. The corresponding MPI scores were calculated for each thigh, for each compartment and for both thighs totally (MPI total ). The total mean pixel intensity (MPI total ) refers to the sum of each pixel signal intensity divided by the corresponding number of pixels. An increased MPI total indicates both a raised fat infiltration together with a reduced muscle volume thereby illustrating disease progression. Clinical scores did not change significantly over time whereas MPI total increased significantly from an initial averaged value of 39.6 to 41.1 with a corresponding rate of 0.62/year. While clinical scores and MPI total measured at the start of the study were significantly related, no correlation was found between the rate of MPI total and MRC sum score changes, MFM total and MFM subscores. MPI total change was 2.3% (0.5-4.3)/year and was significantly higher than the corresponding rates measured for MRCS 0% (0-1.7) /year and MFM total 0% (0-2.0) /year (p = 0.000).On the basis of these results, we suggested that muscle MRI and more particularly the MPI total index could be used as a reliable biomarker and outcome measure of disease progression. In slowly progressive myopathies such as FSHD, the MPI total index might reveal subclinical changes, which could not be evidenced using clinical scales over a short period of time.

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Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Cited by 370 publications

References 36 publications

Muscle histology vs MRI in Duchenne muscular dystrophy

Muscle histology vs MRI in Duchenne muscular dystrophy

Методи Візуалізації М’язової Дистрофії Дюшенна (Літературний Огляд)

Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative study

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