MR imaging of inherited myopathies: a review and proposal of imaging algorithms

Aivazoglou, Laís Uyeda; Guimarães, Júlio Brandão; Link, Thomas M.; Costa, Maria Alice Freitas; Cardoso, Fabiano Nassar; Badia, Bruno de Mattos Lombardi; Farias, Igor Braga; Pinto, Wladimir Bocca Vieira de Rezende; Souza, Paulo Victor Sgobbi de; Oliveira, Acary Souza Bullé; Carvalho, Alzira Alves de Siqueira; Aihara, André Yui; Fernandes, Artur da Rocha Corrêa

doi:10.1007/s00330-021-07931-9

Cited by 12 publications

(7 citation statements)

References 98 publications

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“…To evaluate these new therapeutic options, the development of non-invasive surrogate biomarkers is an important complement to patient-specific outcomes, clinical evaluation, and electrophysiology. Quantitative MRI (qMRI) is a promising non-invasive tool in the evaluation of neuromuscular diseases (NMD) 9 , 10 . Advanced qMRI techniques like Dixon fat-fraction (FF) imaging, quantitative T2 measures or diffusion tensor imaging (DTI) can provide quantitative variables which have shown to be more precise and reliable than semiquantitative rating by visual inspection 11 .…”

Section: Introductionmentioning

confidence: 99%

Quantitative muscle MRI captures early muscle degeneration in calpainopathy

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Rohm

Froeling

et al. 2022

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To evaluate differences in qMRI parameters of muscle diffusion tensor imaging (mDTI), fat-fraction (FF) and water T2 time in leg muscles of calpainopathy patients (LGMD R1/D4) compared to healthy controls, to correlate those findings to clinical parameters and to evaluate if qMRI parameters show muscle degeneration in not-yet fatty infiltrated muscles. We evaluated eight thigh and seven calf muscles of 19 calpainopathy patients and 19 healthy matched controls. MRI scans were performed on a 3T MRI including a mDTI, T2 mapping and mDixonquant sequence. Clinical assessment was done with manual muscle testing, patient questionnaires (ACTIVLIM, NSS) as well as gait analysis. Average FF was significantly different in all muscles compared to controls (p < 0.001). In muscles with less than 8% FF a significant increase of FA (p < 0.005) and decrease of RD (p < 0.004) was found in high-risk muscles of calpainopathy patients. Water T2 times were increased within the low- and intermediate-risk muscles (p ≤ 0.045) but not in high-risk muscles (p = 0.062). Clinical assessments correlated significantly with qMRI values: QMFM vs. FF: r = − 0.881, p < 0.001; QMFM versus FA: r = − 0.747, p < 0.001; QMFM versus MD: r = 0.942, p < 0.001. A good correlation of FF and diffusion metrics to clinical assessments was found. Diffusion metrics and T2 values are promising candidates to serve as sensitive early and non-invasive methods to capture early muscle degeneration in non-fat-infiltrated muscles in calpainopathies.

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Section: Introductionmentioning

confidence: 99%

Quantitative muscle MRI captures early muscle degeneration in calpainopathy

Forsting

Rohm

Froeling

et al. 2022

Sci Rep

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“…In addition, interpretation of NGS results is not always straightforward and the addition of clinical, muscle biopsy, and MRI data can be helpful. In this sense, patterns of muscle MRI infiltration have been described for many diseases [ 25 , 26 ] and there is an increasing body of evidence demonstrating that MRI-based artificial intelligence tools could accurately diagnose muscular disorders [ 27 ]. Moreover, muscle fat replacement has been shown to correlate with results of muscle function tests, and the value of MRI as a possible biomarker to evaluate response to treatments in clinical trials is increasingly being recognized [ 28 , 29 ].…”

Section: Discussionmentioning

confidence: 99%

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

et al. 2022

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Background and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d. Methods We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics. Results We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features. Conclusions By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.

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“…In the lower leg, the medial gastrocnemius and the soleus are preferentially involved, with relative sparing of the lateral gastrocnemius, tibialis posterior, and the anterolateral compartment. [2][3][4][5] In the shoulder girdle and upper limb, there is more severe fatty infiltration of the latissimus dorsi, serratus anterior, subscapularis, and biceps brachii, as well as teres major, and pectoralis major, with a relative sparing of the deltoid and supraspinatus. Muscles of the head and neck are usually spared.…”

Section: Introductionmentioning

confidence: 99%

“…The vasti muscles are affected in more advanced cases. In the lower leg, the medial gastrocnemius and the soleus are preferentially involved, with relative sparing of the lateral gastrocnemius, tibialis posterior, and the anterolateral compartment 2–5 …”

Section: Introductionmentioning

confidence: 99%

Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

et al. 2022

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Introduction/Aim: The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. Methods:LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner-Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. Results:The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus, and lumbar erector spinae. There was a latero-medial and caudo-cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p < 0.05). A striped appearance that has been dubbed the "pseudocollagen sign" was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores.Discussion: WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern ofLGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.

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MR imaging of inherited myopathies: a review and proposal of imaging algorithms

Cited by 12 publications

References 98 publications

Quantitative muscle MRI captures early muscle degeneration in calpainopathy

Quantitative muscle MRI captures early muscle degeneration in calpainopathy

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

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