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Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin-associated protein 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy with cardiac involvement and a severe multisystem phenotype. Recently, Cossins et al reported two siblings with limb girdle muscular dystrophy and impaired transmission of the neuromuscular synapse, demonstrating that defective LAP1 may lead to a congenital myasthenic syndrome. Herein, we describe the association of TOR1AIP1 deficiency with congenital myasthenic syndrome in three siblings.
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Distrofia Muscular do Cíngulo dos Membros , Síndromes Miastênicas Congênitas , Proteínas do Citoesqueleto/genética , Humanos , Laminas/genética , Proteínas de Membrana/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Síndromes Miastênicas Congênitas/genética , FenótipoRESUMO
The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, molecular, and functional level. Through exome sequencing, we identified de novo ACTN2 mutations, a missense and a deletion, in two unrelated patients presenting with progressive early-onset muscle weakness and respiratory involvement. Morphological and ultrastructural analyses of muscle biopsies revealed a distinctive pattern with the presence of muscle fibers containing small structured cores and jagged Z-lines. Deeper analysis of the missense mutation revealed mutant alpha-actinin-2 properly localized to the Z-line in differentiating myotubes and its level was not altered in muscle biopsy. Modelling of the disease in zebrafish and mice by exogenous expression of mutated alpha-actinin-2 recapitulated the abnormal muscle function and structure seen in the patients. Motor deficits were noted in zebrafish, and muscle force was impaired in isolated muscles from AAV-transduced mice. In both models, sarcomeric disorganization was evident, while expression of wild-type alpha-actinin-2 did not result in muscle anomalies. The murine muscles injected with mutant ACTN2 displayed cores and Z-line defects. Dominant ACTN2 mutations were previously associated with cardiomyopathies, and our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder.
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Actinina/genética , Músculo Esquelético/patologia , Miotonia Congênita/genética , Miotonia Congênita/patologia , Animais , Feminino , Humanos , Masculino , Camundongos , Mutação , Peixe-ZebraRESUMO
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients. WBMRI showed distinctive features different from other arthrogryposis multiple congenita. A marked muscle bulk reduction is the predominant finding, mostly affecting the spinal erector muscles and gluteus maximus. Fatty infiltration was only observed in deep paravertebral muscles and distal lower limbs. Mutations in CHRNG are mainly located at the extracellular domain of the protein. Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/genética , Mutação , Fenótipo , Receptores Nicotínicos/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Anormalidades Múltiplas/terapia , Adolescente , Alelos , Substituição de Aminoácidos , Biópsia , Pré-Escolar , Ecocardiografia , Feminino , Estudos de Associação Genética/métodos , Testes Genéticos , Genótipo , Humanos , Imageamento por Ressonância Magnética , Masculino , Hipertermia Maligna/terapia , Modelos Moleculares , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Conformação Proteica , Receptores Nicotínicos/química , Anormalidades da Pele/terapia , Relação Estrutura-Atividade , Imagem Corporal TotalRESUMO
INTRODUCTION: Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD). METHODS: Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA-RD were collected from heat maps of 2 previous studies. Scoring systems were homogenized. Relationships between muscle infiltration and disease duration and age of onset were modeled with random forests. RESULTS: The pattern of infiltration differs according to disease duration but not to age of disease onset. The muscles whose progression best predicts disease duration were semitendinosus, biceps femoris long head, gluteus medius, and semimembranosus. DISCUSSION: In LMNA-RD, our synthetic analysis of lower limb muscle infiltration did not find major differences between forms with different ages of onset but allowed the identification of muscles with characteristic infiltration during disease progression. Monitoring of these specific muscles by quantitative MRI may provide useful imaging biomarkers in LMNA-RD. Muscle Nerve 58:812-817, 2018.
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Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Atrofia Muscular Espinal/diagnóstico por imagem , Adolescente , Adulto , Idoso , Criança , Estudos de Coortes , Progressão da Doença , Extremidades/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatísticas não Paramétricas , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
INTRODUCTION: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. METHODS: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. RESULTS: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores. Most patients demonstrated internal bands of infiltration ("inverted-collagen-VI sign") in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. DISCUSSION: Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7-related myopathies and other axial myopathies such as those related to SEPN1 and LMNA genes. Muscle Nerve 58: 224-234, 2018.
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Miosinas Cardíacas/genética , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/genética , Cadeias Pesadas de Miosina/genética , Adolescente , Adulto , Biópsia , Criança , Eletrodiagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Doenças Musculares/fisiopatologia , Mutação , Mutação de Sentido Incorreto , Coluna Vertebral/diagnóstico por imagem , Adulto JovemRESUMO
INTRODUCTION: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). METHODS: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. RESULTS: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. CONCLUSIONS: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.
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Imageamento por Ressonância Magnética , Proteínas Musculares/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Selenoproteínas/genética , Imagem Corporal Total , Adolescente , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Imagem Corporal Total/métodos , Adulto JovemRESUMO
Background: Sheldon-Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and mild facial involvement, due to pathogenic variants in genes encoding the fast-twitch skeletal muscle contractile myofiber complex (TNNT3, TNNI2, TMP2, and MYH3 genes). Patients and methods: A 16-year-old boy with a history of congenital distal arthrogryposis developed severe kyphoscoliosis and respiratory insufficiency. His mother and younger sister had phenotypes compatible with SHS but to a much lesser extent. Diagnostic work-up included physical examination and whole-body muscular MRI (WBMRI) in all three patients and electroneuromyography (ENMG) and paravertebral muscle biopsy in the proband. DNA sequencing was used to confirm the diagnosis. Results: Physical examination suggested the diagnosis of SHS. No muscle signal abnormalities were found in WBMRI. Large motor unit potentials and reduced recruitment suggestive of neurogenic changes were observed on needle EMG in distal and paravertebral muscles in the proband. DNA sequencing revealed a pathogenic variant in TNNT3 (c.187C>T), which segregated as a dominant trait with the phenotype. Discussion: This is the first report on neurogenic features in a patient with DA2B and a pathogenic variant in TNNT3 encoding the fast-twitch skeletal muscle contractile myofiber complex. A superimposed length-dependent motor nerve involvement was unexpected. Whether developmental disarrangements in number, distribution, or innervation of the motor unit in fetal life might lead to pseudo-neurogenic EMG features warrants further studies, as well as the role of genetic modifiers in SHS variability.
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BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. OBJECTIVE: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). RESULTS: 27 patients (2-62 years, 21-80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A "COL6-like sandwich sign" was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. CONCLUSION: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.
Assuntos
Imageamento por Ressonância Magnética , Distrofias Musculares , Adulto , Humanos , Laminina/genética , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico por imagem , Distrofias Musculares/genética , Imagem Corporal TotalRESUMO
OBJECTIVE: To describe a postnatal series of patients with arthrogryposis multiplex congenita by the causal mechanisms involved. METHODS: In this single-center study, the local data warehouse was used to identify patients with arthrogryposis multiplex congenita. Patients were classified into different etiologic groups. RESULTS: Of 82 patients included, the most frequent cause of arthrogryposis multiplex congenita was a neuromuscular disorder (39%), including skeletal muscle (n = 19), neuromuscular junction (n = 3), and peripheral nerve (n = 11) involvement. In other subgroups, 19 patients (23%) were classified by disorders in the central nervous system, 5 (6%) in connective tissue, 7 (8.5%) had mixed mechanisms, and 18 (22%) could not be classified. Contractures topography was not associated with a causal mechanism. Cerebral magnetic resonance imaging (MRI), electroneuromyography, and muscle biopsy were the most conclusive investigations. Metabolic investigations were normal in all the patients tested. Targeted or whole exome sequencing diagnostic rates were 51% and 71%, respectively. Thirty-three percent of patients died (early death occurred in patients with polyhydramnios, prematurity, and ventilatory dependency). DISCUSSION: The benefits of a precise diagnosis in the neonatal period include more tailored management of arthrogryposis multiplex congenita and better genetic information.
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Artrogripose/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Feminino , Humanos , Lactente , MasculinoRESUMO
INTRODUCTION: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients. RESULTS: Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline. CONCLUSION: In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls.
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Destreza Motora/efeitos dos fármacos , Oligonucleotídeos/uso terapêutico , Músculos Respiratórios/efeitos dos fármacos , Atrofias Musculares Espinais da Infância/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Estudo Historicamente Controlado , Humanos , Masculino , Oligonucleotídeos/farmacologia , Testes de Função Respiratória , Músculos Respiratórios/fisiopatologia , Atrofias Musculares Espinais da Infância/fisiopatologiaRESUMO
BACKGROUND: Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns of muscular involvement in genetic disorders and as a biomarker of disease progression in muscle diseases. In this study, 57 molecularly confirmed LGMDR1 patients from a European cohort (age range 7-78 years) underwent muscle MRI and a global evaluation of functional status (Gardner-Medwin and Walton score and ability to raise the arms). RESULTS: We confirmed a specific pattern of fatty substitution involving predominantly the hip adductors and hamstrings in lower limbs. Spine extensors were more severely affected than spine rotators, in agreement with higher incidence of lordosis than scoliosis in LGMDR1. Hierarchical clustering of lower limb MRI scores showed that involvement of anterior thigh muscles discriminates between classes of disease progression. Severity of muscle fatty substitution was significantly correlated with CAPN3 mutations: in particular, patients with no or one "null" alleles showed a milder involvement, compared to patients with two null alleles (i.e., predicting absence of calpain-3 protein). Expectedly, fat infiltration scores strongly correlated with functional measures. The "pseudocollagen" sign (central areas of sparing in some muscle) was associated with longer and more severe disease course. CONCLUSIONS: We conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.
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Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Distrofia Muscular do Cíngulo dos Membros/diagnóstico por imagem , Adolescente , Adulto , Idoso , Criança , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/patologia , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: The objective of this article is to describe the different stages of spinal neuroarthropathy as assessed by CT and MRI and to discuss their contribution to the management of affected patients. CONCLUSION: Early-stage findings consisted of inflammatory changes involving adjacent vertebral endplates and mimicking degenerative disk disease with inflammation. Subsequently, progression of the lesions led to complete destruction of the intervertebral joint. Knowledge of the initial features of spinal neuroarthropathy may allow earlier treatment, which may improve outcomes.
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Artropatia Neurogênica/diagnóstico , Imageamento por Ressonância Magnética/métodos , Doenças da Coluna Vertebral/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Artropatia Neurogênica/diagnóstico por imagem , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Doenças da Coluna Vertebral/diagnóstico por imagemRESUMO
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.
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Imageamento por Ressonância Magnética/métodos , Doenças Musculares/diagnóstico por imagem , Doenças Musculares/genética , Imagem Corporal Total/métodos , HumanosRESUMO
INTRODUCTION: FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I). Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardation associated with structural brain abnormalities. PATIENTS AND METHODS: We studied cerebral MRIs in twelve patients with FKRP-associated muscular dystrophy presenting in infancy or early childhood, at ages between 14 months and 43 years. Two patients had severe cognitive deficits, four had mild-moderate mental retardation and the rest were considered to have normal intelligence. All, but one were wheelchair-bound and 7 were mechanically ventilated. RESULTS: Brain MRI was abnormal in 9 of 12 patients. Brain atrophy was seen in 8 patients. One child had isolated ventricular enlargement at 4 years. Cortical atrophy involved predominantly temporal and frontal lobes and was most important at later ages. In two cases with serial images this atrophy seemed progressive. Three patients, two with severe and one with moderate mental retardation, showed structural abnormalities of the posterior fossa with hypoplasia of the vermis and pons, and cerebellar hemispheric cysts. These abnormalities were stable with time. Two of these three patients also showed diffuse white matter abnormalities in early childhood, which regressed with time. CONCLUSIONS: MRI abnormalities are common in patients with FKRP-associated muscular dystrophy presenting at birth or in early childhood. Progressive brain atrophy is the most frequent finding. Posterior fossa malformations and transient white matter changes may be seen in patients with associated mental retardation.
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Encéfalo/anormalidades , Predisposição Genética para Doença/genética , Distrofias Musculares/complicações , Distrofias Musculares/genética , Mutação/genética , Malformações do Sistema Nervoso/genética , Proteínas/genética , Adolescente , Adulto , Atrofia/genética , Atrofia/patologia , Encéfalo/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , PentosiltransferasesRESUMO
In recent years, MRI has proven its usefulness for the diagnostic workup of patients with musculo-skeletal diseases, and also shown great promise as a non-invasive, quantitative outcome measure in clinical studies. The characterization of patterns of fatty degenerative lesions, which now plays an important part in the diagnosis of some diseases, is typically performed by the radiologist on routine T1-weighted images. We propose to rationalize acquisitions and reduce patients' time in the scanner by allowing radiologists to perform the qualitative grading of the muscles on images derived from fat/water acquisitions. These maps are color-coded, where the different colors correspond to classes of fatty infiltration degree. This allows a quick visual assessment of the muscles, equivalent to the standard method. Using the weighted Kappa agreement test, the agreement between the proposed method and the traditional one, as well as the reproducibility of the results with two raters, was measured on twenty patients suffering from various neuromuscular pathologies. The presented comparisons show that the use of color coded fat fraction maps is statistically equivalent to using the traditional T1-weighted images when performing visual assessment of degenerative lesions with fatty infiltrations in patients with neuromuscular disorders.
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Tecido Adiposo/patologia , Espectroscopia de Ressonância Magnética/métodos , Músculo Esquelético/patologia , Doenças Musculoesqueléticas/patologia , Imagem Corporal Total/métodos , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos TestesRESUMO
A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic diagnosis was obtained in 38 subjects (RYR1, LMNA, COL6, DNM2, GAA, TPM2, SGCA, MYH7, NEB, SMN, FKBP14). T1-TSE WB-MRI sequences were abnormal in 67% of patients and 27% of asymptomatic relatives. Multiple striped signal abnormalities ('tiger-like') were very specific for COLVI-related myopathy. Distinct involvement of muscles in the head, neck, trunk, girdles and limbs was observed in patients with RYR1, SEPN1, GAA, LMNA or TPM2 mutations. Abnormalities and pattern recognition were more frequent in patients studied due to rigid spine syndrome (80% abnormal, recognisable in 75% of cases), hyperlaxity syndrome (75%; 50%) or with confirmed myopathy but absence of these markers (71%; 40%). Pattern was consistent with the molecular diagnosis in 97%. Mild clinical involvement was revealed by muscle testing in three parents with abnormal WB-MRI. The Garches WB-MRI protocol is suitable for a large spectrum of adults and children with early-onset neuromuscular disorders and can be used as an effective screening test in relatives. Recognition of characteristic patterns of abnormalities is improved by whole-body scanning compared with sequential MRI and, therefore, diagnostic impact is greater.
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Imageamento por Ressonância Magnética , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico , Imagem Corporal Total/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doenças Musculares/classificação , Doenças Musculares/genética , Adulto JovemRESUMO
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle. During the past years, considerable overlap between different pathological and genetic forms of congenital myopathies has been discovered. In contrast, the pattern of involved muscles seen on muscle imaging is often more specific, providing useful additional information in the differential diagnosis of these diseases. Therefore, muscle imaging can help to target the most appropriate genetic investigations. The aim of this review is to give a comprehensive up-to-date overview of the muscle imaging findings that have recently been described in different genetic congenital myopathies.