Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation

2021 ◽  
pp. 1-15
Author(s):  
Shahyan Siddiqui ◽  
Kiran Polavarapu ◽  
Mainak Bardhan ◽  
Veeramani Preethish-Kumar ◽  
Aditi Joshi ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Gene Mutation ◽  
Lower Limbs ◽  
Qualitative Assessment ◽  
Homozygous Mutation ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Study Objective ◽  
South Indian ◽  
Fatty Replacement

Background and Purpose: Mutations in the GMPPB gene affect glycosylation of α-dystroglycan, leading to varied clinical phenotypes. We attempted to delineate the muscle MR imaging spectrum of GMPPB-related Congenital Myasthenic syndrome (CMS) in a single-center cohort study. Objective: To identify the distinct patterns of muscle involvement in GMPPB gene mutations. Methods: We analyzed the muscle MR images of 7 genetically proven cases of GMPPB dystroglycanopathy belonging to three families and studied the potential qualitative imaging pattern to aid in clinico -radiological diagnosis in neuromuscular practice. All individuals underwent muscle MRI (T1, T2, STIR/PD Fat sat. sequences in 1.5 T machine) of the lower limbs. Qualitative assessment and scoring were done for muscle changes using Mercuri staging for fibro-fatty replacement on T1 sequence and Borsato score for myoedema on STIR sequence. Results: All patients were of South Indian origin and presented as slowly progressive childhood to adult-onset fatigable limb-girdle muscle weakness, elevated creatine kinase level, and positive decrement response in proximal muscles. Muscle biopsy revealed features of dystrophy. All patients demonstrated identical homozygous mutation c.1000G >  A in the GMPPB gene. MRI demonstrated early and severe involvement of paraspinal muscles, gluteus minimus, and relatively less severe involvement of the short head of the biceps femoris. A distinct proximo-distal gradient of affliction was identified in the glutei, vasti, tibialis anterior and peronei. Also, a postero-anterior gradient was observed in the gracilis muscle. Conclusion: Hitherto unreported, the distinctive MR imaging pattern described here, coupled with relatively slowly progressive symptoms of fatigable limb-girdle weakness, would facilitate an early diagnosis of the milder form of GMPPB- dystroglycanopathy associated with homozygous GMPPB gene mutation.

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

Neurology ◽  
2020 ◽  
Vol 94 (10) ◽  
pp. e1094-e1102 ◽  
Author(s):  
José Verdú-Díaz ◽  
Jorge Alonso-Pérez ◽  
Claudia Nuñez-Peralta ◽  
Giorgio Tasca ◽  
John Vissing ◽  
...  
Keyword(s):  
Machine Learning ◽  
Correct Diagnosis ◽  
Genetic Diagnosis ◽  
Lower Limbs ◽  
Supervised Machine Learning ◽  
Muscular Dystrophies ◽  
Muscle Mri ◽  
Fatty Replacement ◽  
Numeric Data ◽  
The One

ObjectiveGenetic diagnosis of muscular dystrophies (MDs) has classically been guided by clinical presentation, muscle biopsy, and muscle MRI data. Muscle MRI suggests diagnosis based on the pattern of muscle fatty replacement. However, patterns overlap between different disorders and knowledge about disease-specific patterns is limited. Our aim was to develop a software-based tool that can recognize muscle MRI patterns and thus aid diagnosis of MDs.MethodsWe collected 976 pelvic and lower limbs T1-weighted muscle MRIs from 10 different MDs. Fatty replacement was quantified using Mercuri score and files containing the numeric data were generated. Random forest supervised machine learning was applied to develop a model useful to identify the correct diagnosis. Two thousand different models were generated and the one with highest accuracy was selected. A new set of 20 MRIs was used to test the accuracy of the model, and the results were compared with diagnoses proposed by 4 specialists in the field.ResultsA total of 976 lower limbs MRIs from 10 different MDs were used. The best model obtained had 95.7% accuracy, with 92.1% sensitivity and 99.4% specificity. When compared with experts on the field, the diagnostic accuracy of the model generated was significantly higher in a new set of 20 MRIs.ConclusionMachine learning can help doctors in the diagnosis of muscle dystrophies by analyzing patterns of muscle fatty replacement in muscle MRI. This tool can be helpful in daily clinics and in the interpretation of the results of next-generation sequencing tests.Classification of evidenceThis study provides Class II evidence that a muscle MRI-based artificial intelligence tool accurately diagnoses muscular dystrophies.

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

2016 ◽  
Vol 76 (4) ◽  
pp. 681-687 ◽  
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.

Clinical and brain MR imaging effectively influences the ATP7B genotype of Neurologic Wilson patients

2020 ◽  
Author(s):  
Juan Wang ◽  
Yongzhu Han ◽  
Renmin Yang ◽  
Xuen Yu ◽  
Juncang Wu
Keyword(s):  
Mr Imaging ◽  
Gene Mutation ◽  
Wilson Disease ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Homozygous Mutation ◽  
Mri Findings ◽  
Its Gene ◽  
The Relationship ◽  
Mutation Type

Abstract Objective To understand the relationship between the two types of mutations in patients with Wilson disease (WD) and clinical practice, and to search for the clinical biological markers of the two types of mutations. Methods The hospitalized patients, who were in the affiliated hospital of neurology institute of anhui university of traditional Chinese medicine from May 2014 to May 2019, with p. arg778leu or p. pro992leu homozygous mutation type of neurologic WD, were selected and underwent demographic, clinical manifestations, serological indicators and brain MR imaging(MRI) data were analyzed to compare the differences of the two mutant types of neurologic WD. ResultsThe group of 103 patients with neurologic WD join in this research, including p.A rg778Leu mutant WD 65 cases and p.P ro992Leu mutant WD 38 cases. The two types of mutations in the WD demographic, clinical manifestation and most serological index indifference, and brain MRI findings have significant differences, especially the p.A rg778Leu mutant WD damage the thalamus(χ2 =17.834, P<0.001), midbrain(χ2 =12.579, P<0.001) and pons(χ2 =10.605, P=0.001)p.P ro992Leu mutant WD have obvious difference, the results of multivariate analysis were also different (P<0.05). Conclusions The demography, clinical features and serology of neurologic WD have nothing to do with its gene mutation type, and the MRI manifestations of brain are related to its gene mutation type, among which the ATP7B gene p.arg778leu mutation is more likely to involve thalamus, midbrain and pons.

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

2018 ◽  
Vol 90 (5) ◽  
pp. 576-585 ◽  
Author(s):  
Alicia Alonso-Jimenez ◽  
Rosemarie H M J M Kroon ◽  
Aida Alejaldre-Monforte ◽  
Claudia Nuñez-Peralta ◽  
Corinne G C Horlings ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Data ◽  
Genetic Disorder ◽  
Muscle Pathology ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Imaging Studies ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Adductor Magnus ◽  
Fatty Replacement

Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.MethodsWe present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.ResultsFatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsWe have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

2008 ◽  
Vol 18 (4) ◽  
pp. 291-298 ◽  
Author(s):  
Nicola Carboni ◽  
Marco Mura ◽  
Giovanni Marrosu ◽  
Eleonora Cocco ◽  
Mohammad Ahmad ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Lmna Gene ◽  
Mri Findings ◽  
Muscle Mri ◽  
Cardiac Phenotype

scholarly journals Prevalence of the additional head of quadriceps femoris in the South Indian population: a cadaveric and radiological study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Femina Sam ◽  
Madhavi Kandagaddala ◽  
Ivan James Prithishkumar ◽  
Koyeli Mary Mahata ◽  
Mahasampath Gowri ◽  
...  
Keyword(s):  
Indian Population ◽  
Vastus Lateralis ◽  
Femoral Nerve ◽  
Quadriceps Femoris ◽  
Lower Limbs ◽  
South Indian Population ◽  
The South ◽  
South Indian ◽  
Circumflex Femoral Artery ◽  
Vastus Intermedius

AbstractQuadriceps femoris is an extensor muscle in the anterior compartment of thigh and is traditionally taught to be composed of four heads. Recently, there is an increased interest in the occurrence of an additional muscle head of quadriceps femoris. But scientific knowledge regarding its incidence is lacking in the South Indian population. This study was done to confirm the presence of the additional head by routine anatomic dissection and radiological imaging techniques. Forty-one formalin fixed human cadaveric lower limbs were dissected and the morphology of the additional head was noted. Retrospective analysis of 88 MRI images of patients was done. The additional muscle head was present in 43.9% of the cadaveric lower limbs and was consistently located between the vastus lateralis and vastus intermedius. It originated from variable portions of the greater trochanter, intertrochanteric line, lateral lip of linea aspera and lateral surface of the shaft of femur and inserted either as a muscle belly or as an aponeurosis into the vastus intermedius (55.6%), vastus lateralis (22.2%) or directly into the base of the patella. It received its vascular supply from branches of the lateral circumflex femoral artery and was innervated by branches from the posterior division of the femoral nerve. In addition, the additional muscle head was identified by MRI and its incidence was reported to be 30.68% for the first time in living subjects. The result of this study provides additional information in understanding the morphology of the quadriceps femoris muscle.

Thigh and Leg Muscle MRI Findings in GNE Myopathy

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.

COL1A1 GENE POLYMORPHISM IN MATERNITY PATIENTS WITH SOFT TISSUE INJURIES

2021 ◽  
pp. 54-58
Author(s):  
Kh.M. Laypanova ◽  
N.A. Zharkin ◽  
Yu.A. Shatilova
Keyword(s):  
Soft Tissue ◽  
Gene Polymorphism ◽  
Gene Mutation ◽  
Pelvic Floor Muscle ◽  
Soft Tissue Injuries ◽  
Birth Trauma ◽  
Homozygous Mutation ◽  
Col1a1 Gene ◽  
Tissue Injuries ◽  
The Impact

The aim of the paper is to determine the impact of COL1A1 gene polymorphism on soft tissue injuries in maternity patients. Materials and Methods. The study involved 62 maternity patients who were divided into 2 groups. The first group included 45 patients (72.5 %) without type 1 collagen mutation, alpha 1 Sp1-polymorphism (G2046T) G/G. The second group consisted of 16 patients (27.5 %) with mutation in COL1A1 gene, Sp1-polymorphism (G2046T) G/T. During the study, a homozygous mutation, Sp1-polymorphism (G2046T) T/T was observed in one patient. Age, parity and mean fetal weight of women were comparable. Results. In patients with the COL1A1 mutation, Sp1-polymorphism (G2046T), the incidence of soft tissue birth injuries was 2.3 times higher than in those without such a mutation. Thus, it was confirmed that COL1A1 gene mutation contributes to the soft tissue trauma of the birth canal. It can be regarded as a prognostic criterion and as a basis for preventive measures during pregnancy. Conclusion. Birth trauma risks remain a controversial issue. One of the factors may be COL1A1 gene mutation. Key words: birth trauma, pelvic floor muscle insufficiency, collagen 1 gene polymorphism (COL1A1). Цель работы – определить роль полиморфизма гена COL1A1 у женщин с родовыми травмами мягких тканей родовых путей. Материалы и методы. В исследовании приняло участие 62 родильницы, которые были разделены на 2 группы. В первую группу включены 45 (72,5 %) родильниц, у которых мутация коллагена типа 1, альфа 1 Sp1-polymorphism (G2046T) G/G не обнаружена. Во второй группе, состоящей из 16 (27,5 %) родильниц, обнаружена мутация гена COL1A1 Sp1-polymorphism (G2046T) G/T. В процессе проведения исследования у одной пациентки обнаружена гомозиготная мутация Sp1-polymorphism (G2046T) T/T. Пациентки были сопоставимы по возрасту, паритету и средней массе плода. Результаты. У пациенток с мутацией COL1A1 Sp1-polymorphism (G2046T) частота родовых травм мягких тканей оказалась в 2,3 раза выше, чем у пациенток без мутации. Таким образом, подтверждено, что мутация данного гена имеет определенное значение в реализации риска травм мягких тканей родовых путей, что может послужить прогностическим критерием и основанием для проведения профилактических мероприятий в период беременности. Выводы. Вопрос о рисках родового травматизма остается спорным. Одним их факторов может явиться мутация гена COL1A1. Ключевые слова: родовой травматизм, недостаточность мышц тазового дна, полиморфизм гена коллагена 1 (COL1A1).

scholarly journals The heart of myofibrillary myopathy

2021 ◽  
Author(s):  
Natália Merten Athayde ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Protein A ◽  
Cardiac Pacemaker ◽  
Fatty Degeneration ◽  
Lower Limbs ◽  
Clinical Approach ◽  
Limb Weakness ◽  
Muscle Mri ◽  
Morphological Findings ◽  
Neurological Exam ◽  
Determining Factor

Context: Myofibrillar myopathies (MFM) represent a heterogeneous group of disorders of skeletal and cardiac muscle caused by mutations in genes that encode proteins of sarcomere. Diagnosis is a challenge due to clinical and genetic variability. Case report: Woman, 36 years old, presenting stumbles and falls for 3 years evolving with proximal limb weakness. At age 30, she fainted and a cardiac pacemaker was implanted. Non-consanguineous parents. Neurological exam: proximal and distal weakness in lower limbs and distal atrophy; osteotendinous reflexes normal. Bilateral scapula alata. Exams: CPK = 457 U / l; EMG: myopathic pattern. Muscle MRI: diffuse and heterogeneous fatty degeneration, marked in sartorius, gracilis and semitedinous. Panel NGS myopathies: pathogenic variant, c.1175T> C, missense in heterozygosis in desmin gene. CONCLUSION: The diagnosis of MFM is based on the morphological findings of muscle biopsy with the presence of protein aggregates as a determining factor. Currently, genetic testing by NGS has facilitated early diagnosis allowing for a more appropriate clinical approach. The desmin gene was the first one described to be associated with this group of myopathies. It encodes the desmin protein, a member of the intermediate filament family present in cardiac and skeletal muscle. Several phenotypes are related to desmin gene: isolated dilated cardiomyopathy; scapuloperoneal weakness and distoproximal weakness with cardiac alterations. Desminopathy is a rare cause of cardiomyopathy and / or myopathy. The diagnosis should be thought in patient with muscle weakness and cardiac changes.

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