Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.

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Thigh and Leg Muscle MRI Findings in GNE Myopathy

Journal of Neuromuscular Diseases ◽

10.3233/jnd-210629 ◽

2021 ◽

pp. 1-8

Author(s):

Farzad Fatehi ◽

Soroor Advani ◽

Ali Asghar Okhovat ◽

Bentolhoda Ziaadini ◽

Hosein Shamshiri ◽

...

Keyword(s):

Tibialis Anterior ◽

Vastus Lateralis ◽

Fatty Infiltration ◽

Muscular Dystrophies ◽

Tibialis Posterior ◽

Muscle Mri ◽

Muscle Involvement ◽

Fat Infiltration ◽

Gne Myopathy ◽

Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T > C (p.M743T) mutation; however, this finding may be related to longer disease duration.

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Clinical Features and Genotypes of Laing Distal Myopathy in a Group of Chinese Patients, With In-Frame Deletions of MYH7 as Common Mutations

10.21203/rs.3.rs-38414/v1 ◽

2020 ◽

Author(s):

Meng Yu ◽

Ying Zhu ◽

Yuanyuan Lu ◽

He Lv ◽

Wei Zhang ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Chinese Patients ◽

Distal Myopathy ◽

Muscle Mri ◽

Finger Extension ◽

Extensor Hallucis Longus ◽

Common Causes ◽

Severity Of The Disease ◽

Neurogenic Lesions

Abstract Background: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients of Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness were common in our patients as well as neck flexion weakness. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of MYH7 gene are common causes of Laing distal myopathy.

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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01626-y ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Meng Yu ◽

Ying Zhu ◽

Yuanyuan Lu ◽

He Lv ◽

Wei Zhang ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Chinese Patients ◽

Distal Myopathy ◽

Muscle Mri ◽

Finger Extension ◽

Extensor Hallucis Longus ◽

Common Causes ◽

Severity Of The Disease ◽

Neurogenic Lesions

Abstract Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Results Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Conclusions Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.

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Thigh muscle MRI in immune-mediated necrotising myopathy: extensive oedema, early muscle damage and role of anti-SRP autoantibodies as a marker of severity

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2016-210198 ◽

2016 ◽

Vol 76 (4) ◽

pp. 681-687 ◽

Cited By ~ 64

Author(s):

Iago Pinal-Fernandez ◽

Maria Casal-Dominguez ◽

John A Carrino ◽

Arash H Lahouti ◽

Pari Basharat ◽

...

Keyword(s):

Signal Recognition Particle ◽

Thigh Muscle ◽

Signal Recognition ◽

Muscle Mri ◽

Muscle Involvement ◽

Course Of Disease ◽

Immune Mediated ◽

Fatty Replacement ◽

Coa Reductase

ObjectivesThe aims of this study were to define the pattern of muscle involvement in patients with immune-mediated necrotising myopathy (IMNM) relative to those with other inflammatory myopathies and to compare patients with IMNM with different autoantibodies.MethodsAll Johns Hopkins Myositis Longitudinal Cohort subjects with a thigh MRI (tMRI) who fulfilled criteria for IMNM, dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) or clinically amyopathic DM (CADM) were included in the study. Muscles were assessed for intramuscular and fascial oedema, atrophy and fatty replacement. Disease subgroups were compared using univariate and multivariate analyses. Patients with IMNM with anti-signal recognition particle (SRP) autoantibodies were compared with those with IMNM with anti-HMG-CoA reductase (HMGCR) autoantibodies.ResultsThe study included 666 subjects (101 IMNM, 176 PM, 219 DM, 17 CADM and 153 IBM). Compared with DM or PM, IMNM was characterised by a higher proportion of thigh muscles with oedema, atrophy and fatty replacement (p<0.01). Patients with IMNM with anti-SRP had more atrophy (19%, p=0.003) and fatty replacement (18%, p=0.04) than those with anti-HMGCR. In IMNM, muscle abnormalities were especially common in the lateral rotator and gluteal groups. Fascial involvement was most widespread in DM. Fatty replacement of muscle tissue began early during the course of disease in IMNM and the other groups. An optimal combination of tMRI features had only a 55% positive predictive value for diagnosing IMNM.ConclusionsCompared with patients with DM or PM, IMNM is characterised by more widespread muscle involvement. Anti-SRP-positive patients have more severe muscle involvement than anti-HMGCR-positive patients.

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Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children

10.1101/2021.03.27.21254399 ◽

2021 ◽

Author(s):

Hossam M. Sakr ◽

Nagia Fahmy ◽

Nermine S. Elsayed ◽

Hala Abdulhady ◽

Tamer A. El-Sobky ◽

...

Keyword(s):

Muscular Dystrophy ◽

Fatty Infiltration ◽

Congenital Muscular Dystrophy ◽

Whole Body ◽

Control Group ◽

Muscle Mri ◽

Muscle Involvement ◽

Muscle Diseases ◽

Body Muscle ◽

Index Group

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD.

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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

10.21203/rs.3.rs-38414/v2 ◽

2020 ◽

Author(s):

Meng Yu ◽

Ying Zhu ◽

Yuanyuan Lu ◽

He Lv ◽

Wei Zhang ◽

...

Keyword(s):

Clinical Features ◽

Fatty Infiltration ◽

Chinese Patients ◽

Distal Myopathy ◽

Muscle Mri ◽

Finger Extension ◽

Extensor Hallucis Longus ◽

Common Causes ◽

Severity Of The Disease ◽

Neurogenic Lesions

Abstract Background: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.

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074: Potential role of peptide natriuretic and troponin-T to predict cardiac echocardiographic findings in hereditary transthyretin amyloidosis patients

Archives of Cardiovascular Diseases Supplements ◽

10.1016/s1878-6480(13)71004-8 ◽

2013 ◽

Vol 5 (1) ◽

pp. 24-25

Author(s):

Thibaud Damy ◽

Jean-François Deux ◽

Stéphane Moutereau ◽

Soulef Guendouz ◽

Dania Mohti ◽

...

Keyword(s):

Potential Role ◽

Troponin T ◽

Transthyretin Amyloidosis ◽

Echocardiographic Findings ◽

Hereditary Transthyretin Amyloidosis

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VALUE OF MUSCLE MAGNETIC RESONANCE IMAGING IN COMPARISON WITH MUSCLE BIOPSY FOR DIFFERENTIATING VARIOUS TYPES OF LGMD

QJM ◽

10.1093/qjmed/hcab102.022 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Sarah M Ihab ◽

Doaa A El-aidy ◽

Khaled A Ahmed ◽

Nagia A Fahmy

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Muscle Biopsy ◽

Rating Scale ◽

Fatty Infiltration ◽

Resonance Imaging ◽

University Hospitals ◽

Muscle Mri ◽

Muscle Involvement ◽

Genetic Studies

Abstract Background Limb Girdle Muscular Dystrophies (LGMD) are a clinically and genetically heterogeneous group of disorders which share progressive muscle weakness and degenerative muscle changes involving the shoulder and pelvic girdle muscles. The diagnostic approach is based on a comprehensive clinical history, a thorough physical examination, laboratory data, electrophysiological investigations, and particularly the histologic and immunoanalysis of a muscle biopsy, followed by a genetic confirmation of the diagnosis. Magnetic Resonance Imaging (MRI) complements clinical examination by delineating characteristic disease specific patterns of muscle involvement which helps in differentiation of individual LGMD subtypes. It is used to demonstrate the severity and distinguish between dystrophic and non-dystrophic diseases. Objective Identification of the value, sensitivity of Muscle MRI to be used as a tool for diagnosis and differentiation of patients with LGMD and as a guidance for the needed immunological and genetic studies to confirm their diagnosis. Patients and methods This study was conducted on 71 patients with clinical criteria of LGMD diagnosed by clinical, laboratory and dystrophic muscle biopsy from Myology Clinic and Neuromuscular Unit, Ain Shams University Hospitals, Muscle MRI was done blind from the results of muscle biopsy, immunohistochemistry and genetic studies. MRI muscles was done at mid-thigh, mid-leg levels. MRI Equipment was 1.5 Tesla in the Radiology department, Ain Shams University Hospitals (T1, Fat subtraction). MRI T1 images were obtained and muscle fatty infiltration in every single muscle was graded on a 5 point rating scale. Results The results showed that the diagnostic performance of muscle MRI in LGMD is most sensitive when calculated in examined Thigh muscles, followed by Leg muscles in comparison with muscle biopsy. Conclusion Muscle MRI is a practical, reproducible and valid tool that can be used in assessment of suspected LGMD patients.

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Imaging Patterns of Muscle Atrophy

Seminars in Musculoskeletal Radiology ◽

10.1055/s-0038-1641574 ◽

2018 ◽

Vol 22 (03) ◽

pp. 299-306 ◽

Cited By ~ 8

Author(s):

Marcel Wolf ◽

Mike Wattjes ◽

Marc-André Weber

Keyword(s):

Diagnostic Value ◽

Quantitative Mri ◽

Whole Body ◽

Dystrophic Muscle ◽

Muscle Mri ◽

Muscle Involvement ◽

Muscle Diseases ◽

Surrogate Outcome ◽

Magnetic Resonance Imaging Mri

AbstractThe role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis. In addition, more recently the role of imaging has gone beyond diagnostic purposes and includes disease as well as treatment monitoring. Conventional and quantitative muscle MRI techniques allow for the detection of subclinical disease progression (e.g., in muscular dystrophies) and is a powerful surrogate outcome measure in clinical trials. We present and discuss recent data on the role of conventional and quantitative MRI in the diagnosis and monitoring of inherited dystrophic muscle diseases as well as muscle denervation.

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