Role of MRI in the diagnosis of neuromuscular disorders

2011 ◽  
Vol 152 (34) ◽  
pp. 1362-1367
Author(s):  
Endre Pál ◽  
Katalin Dérczy
Keyword(s):  
Differential Diagnosis ◽  
Muscle Damage ◽  
Neuromuscular Disease ◽  
Neuromuscular Disorders ◽  
Whole Body ◽  
Muscular Dystrophies ◽  
Genetic Tests ◽  
Muscle Involvement ◽  
Whole Body Mri

Recently, the assessment of the muscles using limb MRI and whole body MRI has become widely available and more frequent. In cases of muscular dystrophies it may help to select the optimal muscles for biopsy, because the severely atrophic and degenerated muscles are not suitable for histological tests. It is also known that the pattern of muscle involvement is characteristic for a certain neuromuscular disease, and clinically silent muscle damage can be visualized, as well. Therefore, imaging of muscles is helpful in neuromuscular differential diagnosis and planning genetic tests. Orv. Hetil., 2011, 152, 1362–1367.

scholarly journals Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

2014 ◽  
Vol 72 (9) ◽  
pp. 721-734 ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Júlia Filardi Paim ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Neuromuscular Disorders ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscular Dystrophies ◽  
Muscle Involvement ◽  
Respiratory Management ◽  
Diagnostic Flowchart ◽  
And Function

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

scholarly journals Current role of CT and whole body MRI in multiple myeloma

2013 ◽  
Vol 94 (2) ◽  
pp. 169-183 ◽  
Author(s):  
R. Duvauferrier ◽  
M. Valence ◽  
S. Patrat-Delon ◽  
E. Brillet ◽  
E. Niederberger ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Whole Body ◽  
Whole Body Mri ◽  
Current Role

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

scholarly journals An Overview of Cardiac Management in Neuromuscular Disease

2016 ◽  
Vol 10 (1) ◽  
pp. 82-88
Author(s):  
Renee M. Hickey ◽  
John D. Cullen ◽  
George M. Sachs
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Function ◽  
Myasthenia Gravis ◽  
Neuromuscular Disease ◽  
Neuromuscular Disorders ◽  
Cardiovascular Complications ◽  
Muscular Dystrophies ◽  
Cardiac Pathology ◽  
Life Threatening

Muscular dystrophy and myasthenia gravis are two neuromuscular disorders that can involve significant cardiovascular complications. The frequency and severity of cardiac pathology varies widely among the muscular dystrophies. In some, it is nearly inevitable and requires regular evaluation. In others, assessment of cardiac function can be more symptom-driven. On-ly a minority of myasthenic patients manifest disease-related cardiovascular complications; however, their presentation can be rapidly progressive and life-threatening..

scholarly journals The “birth of death”: MRI step-by-step reveals the early appearance of a bone marrow infarct

2019 ◽  
Vol 8 (3) ◽  
pp. 205846011983469 ◽  
Author(s):  
Elie Barakat ◽  
Nathalie Guischer ◽  
Frédéric Houssiau ◽  
Frederic E. Lecouvet
Keyword(s):  
Bone Marrow ◽  
De Novo ◽  
Whole Body ◽  
High Signal ◽  
Systemic Steroid ◽  
High Dose ◽  
Mr Images ◽  
Whole Body Mri ◽  
Skeletal Involvement

The magnetic resonance imaging (MRI) appearance of an “established” bone marrow infarct is well-known, consisting of an area of preserved bone marrow signal surrounded by a serpiginous line. We report the uncommon observation of the very early phases of appearance of a bone marrow infarct, showing its progressive de novo appearance on MR images paralleling clinical symptoms and high-dose systemic steroid administration in a young female patient, presenting with acute knee pain. The initial knee MR examination performed one week after pain onset showed no abnormality. One week later, a second examination showed subtle ill-defined dotted signal abnormalities of the bone marrow of uncertain significance, of high signal on PDFS sequences. A third MR study obtained again one week later showed more evident findings with confluence of the high signal “dots” into a serpiginous line with a geographical appearance of the lesion, corresponding to the typical MRI presentation of bone marrow infarcts. Follow-up MRI at seven weeks showed definitive stability of this bone marrow infarct. A whole-body MRI performed for whole skeleton screening revealed multiple bone marrow infarcts typical for systemic avascular necrosis. This case represents a novel observation of the “birth” of a bone marrow infarct, from early intriguing changes to its typical ring-shaped appearance on MR images. It also reminds of the key role of MRI for early diagnosis of bone marrow infarcts and illustrates the emerging role of whole-body MRI for the detection of multifocal, asymptomatic skeletal involvement by ischemic lesions in systemic osteonecrosis.

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