Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

Tordjman, Mickaël; Dabaj, Ivana; Laforêt, Pascal; Felter, Adrien; Ferreiro, Ana; Biyoukar, Moustafa; Law-Ye, Bruno; Zanoteli, Edmar; Castiglioni, Claudia; Rendu, John; Béroud, Christophe; Chamouni, Alexandre; Richard, Pascale; Mompoint, D.; Quijano‐Roy, Susana; Carlier, Robert‐Yves

doi:10.1007/s00330-018-5472-5

Cited by 32 publications

(20 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our series of TK2 patients although no clear pattern of fat infiltration was detected, we have identified some radiological common features, as the involvement of the sartorius muscle in all cases. This muscle is usually spared until late stages in many genetic muscle diseases (is only affected early in some myofibrillar myopathies, in the Laing distal myopathy and in RYR1-related myopathies (encodes for ryanodine receptor 1 protein) [12, 25–27]), so this finding could be helpful for differential diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Domínguez‐González

Hernández-Laín

Rivas

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. Methods We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12. Results The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients. Conclusions The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.

show abstract

Section: Discussionmentioning

confidence: 99%

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Domínguez‐González

Hernández-Laín

Rivas

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Muscle fat infiltration and muscle size were assessed on transversal T1-weighted images at preselected standardized levels that were identified with the help of the sagittal T1 weighted images. Fat-infiltration was scored according to the Mercuri-score, developed for use in muscular dystrophy, and widely used in reporting muscle fat-infiltration in myopathic muscles [33, 34]. The global degree of muscle fat infiltration (grade 0: no fat-infiltration; grade 1: fatty streaks; grade 2: less than 30% fat infiltration; grade 3: more than 30% but less than 60% fat infiltration; grade 4: more than 60% fat infiltration; grade 5: totally replaced by fat) was scored [35].…”

Section: Methodsmentioning

confidence: 99%

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

et al. 2019

View full text Add to dashboard Cite

Background Myotonic Dystrophy 1 (DM1) causes progressive myopathy of extremity muscles. DM1 may also affect muscles of the trunk. The aim of this study was to investigate fat infiltration and muscle size in trunk muscles in DM1 patients, and in an age and gender matched control group. Further, explore how fat infiltration and degree of atrophy in these muscles are associated with motor and respiratory function in DM1 patients. Method We measured fat infiltration and trunk muscle size by MRI in 20 patients with genetically confirmed classic form of DM1, and compared these cases with 20 healthy, age and gender matched controls. In the DM1 group, we investigated correlations between MRI findings and clinical measures of muscle strength, mobility and respiration. We used sum scores for fat infiltration and muscle size in trunk flexors and trunk extensors in the analysis of group differences and correlations. Results Significant differences between cases and controls were present for fat infiltration in trunk flexors ( p = 0.001) and trunk extensors (p = < 0.001), and for muscle size in trunk flexors ( p = 0.002) and trunk extensors ( p = 0.030). Fat infiltration in trunk flexors were significant correlated to back extension strength ( rho = − 0.523 p = 0.018), while muscle size in trunk flexors was significantly correlated to trunk flexion strength (rho = 0.506 p = 0.023 ). Fat infiltration in trunk flexors was significantly correlated with lower general mobility ( rho = − 0.628, p = 0.003), reduced balance ( rho = 0.630, p < 0.003) and forced vital capacity ( rho − 0.487 p = 0.040). Conclusions Trunk muscles in DM1 patients had significant higher levels of fat infiltration and reduced muscle size compared to age and gender matched controls. In DM1 patients, fat infiltration was associated with reduced muscle strength, mobility, balance and lung function, while muscle size was associated with reduced muscle strength and lung function. These findings are of importance for clinical management of the disease and could be useful additional outcome measures in future intervention studies. Electronic supplementary material The online version of this article (10.1186/s12883-019-1357-8) contains supplementary material, which is available to authorized users.

show abstract

“…The characteristic imaging patterns seen in different types of muscular dystrophy have led some to incorporate imaging into the diagnostic evaluation of these diseases. 3,11 The observation of a specific pattern of fat infiltration can be used to support a clinical diagnosis, narrow the differential diagnosis, and guide the selection of genetic tests. However, this practice is not yet considered the standard of care in these diseases for multiple reasons.…”

Section: Qualitative Methods To Evaluate Intramuscular Fatmentioning

confidence: 99%

“…First, the number of genes that are known to cause myopathy continues to increase, and the availability of genetic testing for these conditions has created a demand for improved phenotyping of these disorders to optimize selection of genetic tests and to investigate gene variants of undetermined significance . There is also growing evidence that MRI can aid in the diagnosis of these diseases because many of these disorders are associated with specific patterns of early muscle involvement and late sparing …”

mentioning

confidence: 99%

“…2 There is also growing evidence that MRI can aid in the diagnosis of these diseases because many of these disorders are associated with specific patterns of early muscle involvement and late sparing. 3,4 Another reason for the growth in MRI-based myology may be its increasingly routine use in the acquired myopathies, which has led to greater familiarity with and acceptance of these techniques among practitioners. Standard MRI sequences are capable of identifying regions of active intramuscular inflammation and regions of chronic fat infiltration, both of which figure prominently in the pathology of inflammatory and necrotizing myopathies.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Leung

2019

Muscle and Nerve

View full text Add to dashboard Cite

Recent years have seen steady progress in the identification of genetic muscle diseases as well as efforts to develop treatment for these diseases. Consequently, sensitive and objective new methods are required to identify and monitor muscle pathology. Magnetic resonance imaging offers multiple potential biomarkers of disease severity in the muscular dystrophies. This Review uses a pathology‐based approach to examine the ways in which MRI and spectroscopy have been used to study muscular dystrophies. Methods that have been used to quantitate intramuscular fat, edema, fiber orientation, metabolism, fibrosis, and vascular perfusion are examined, and this Review describes how MRI can help diagnose these conditions and improve upon existing muscle biomarkers by detecting small increments of disease‐related change. Important challenges in the implementation of imaging biomarkers, such as standardization of protocols and validating imaging measurements with respect to clinical outcomes, are also described.

show abstract

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

Cited by 32 publications

References 43 publications

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

Advancements in magnetic resonance imaging‐based biomarkers for muscular dystrophy

Contact Info

Product

Resources

About