scholarly journals Clinical, pathological, imaging, and genetic characteristics of patients with progressive muscular dystrophies

2021 ◽  
Vol 17 (3) ◽  
pp. 34-39
Author(s):  
H.V. Palahuta
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Signs ◽  
Genetic Data ◽  
Muscular Dystrophies ◽  
Diagnostic Problem ◽  
Resonance Imaging ◽  
Inherited Disorders ◽  
Genetic Characteristics ◽  
Progressive Muscle Weakness ◽  
Combined Use

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features. Being a rare disease, muscular dystrophy represents a huge diagnostic problem for clinicians. Clinically, muscular dystrophies are characterized by progressive muscle weakness, muscle atrophy, and movement disorders. The combination of clinical signs and analysis of the possible type of inheritance allows one to suspect specific forms of muscular dystrophy. Clinicians increasingly need to rely on electrophysiological, imaging, and genetic data for more accurate differential diagnosis. The paper presents the results of the combined use of magnetic resonance imaging of the thigh muscles and electromyography in 17 patients with muscular dystrophy.

Cardiac magnetic resonance in patients with muscular dystrophies

2020 ◽  
pp. 204748732092305 ◽  
Author(s):  
Chrysanthos Grigoratos ◽  
Alberto Aimo ◽  
Andrea Barison ◽  
Vincenzo Castiglione ◽  
Giancarlo Todiere ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Prognostic Significance ◽  
Standard Technique ◽  
Muscle Disease ◽  
Added Value ◽  
Muscular Dystrophies ◽  
Inherited Disorders

Muscular dystrophies are inherited disorders sharing similar clinical features and dystrophic changes on muscle biopsy. Duchenne muscular dystrophy is the most common inherited muscle disease of childhood, and Becker muscular dystrophy is a milder allelic variant with a slightly lower prevalence. Myotonic dystrophy is the most frequent form in adults. Cardiac magnetic resonance is the gold standard technique for the quantification of cardiac chamber volumes and function, and also enables a characterisation of myocardial tissue. Most cardiac magnetic resonance studies in the setting of muscular dystrophy were carried out at single centres, evaluated small numbers of patients and used widely heterogeneous protocols. Even more importantly, those studies analysed more or less extensively the patterns of cardiac involvement, but usually did not try to establish the added value of cardiac magnetic resonance to standard echocardiography, the evolution of cardiac disease over time and the prognostic significance of cardiac magnetic resonance findings. As a result, the large and heterogeneous amount of information on cardiac involvement in muscular dystrophies cannot easily be translated into recommendations on the optimal use of cardiac magnetic resonance. In this review, whose targets are cardiologists and neurologists who manage patients with muscular dystrophy, we try to summarise cardiac magnetic resonance findings in patients with muscular dystrophy, and the results of studies evaluating the role of cardiac magnetic resonance as a tool for diagnosis, risk stratification and follow-up. Finally, we provide some practical recommendations about the need and timing of cardiac magnetic resonance examination for the management of patients with muscular dystrophy.

scholarly journals Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kentaro Kawamura ◽  
Shinobu Fukumura ◽  
Koki Nikaido ◽  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
...  
Keyword(s):  
Motor Function ◽  
Muscular Dystrophies ◽  
Shoulder Abduction ◽  
Open Label ◽  
Inherited Disorders ◽  
Progressive Muscle Weakness ◽  
Muscle Testing ◽  
Therapeutic Benefits ◽  
Trans Stilbene ◽  
The Mean

AbstractMuscular dystrophies (MDs) are inherited disorders characterized by progressive muscle weakness. Previously, we have shown that resveratrol (3,5,4′-trihydroxy-trans-stilbene), an antioxidant and an activator of the protein deacetylase SIRT1, decreases muscular and cardiac oxidative damage and improves pathophysiological conditions in animal MD models. To determine whether resveratrol provides therapeutic benefits to patients with MDs, an open-label, single-arm, phase IIa trial of resveratrol was conducted in 11 patients with Duchenne, Becker or Fukuyama MD. The daily dose of resveratrol was 500 mg/day, which was increased every 8 weeks to 1000 and then 1500 mg/day. Primary outcomes were motor function, evaluated by a motor function measure (MFM) scale, muscular strength, monitored with quantitative muscle testing (QMT), and serum creatine kinase (CK) levels. Adverse effects and tolerability were evaluated as secondary outcomes. Despite the advanced medical conditions of the patients, the mean MFM scores increased significantly from 34.6 to 38.4 after 24 weeks of medication. A twofold increase was found in the mean QMT scores of scapula elevation and shoulder abduction. Mean CK levels decreased considerably by 34%. Diarrhoea and abdominal pain was noted in six and three patients, respectively. Resveratrol may provide some benefit to MD patients.

scholarly journals Clinical and genetic characteristics of congenital muscular dystrophies (Part 1)

2020 ◽  
Vol 10 (1) ◽  
pp. 10-21 ◽  
Author(s):  
P. A. Chausova ◽  
O. P. Ryzhkova ◽  
A. V. Polyakov
Keyword(s):  
Muscular Dystrophy ◽  
Clinical Symptoms ◽  
Muscle Protein ◽  
Molecular Genetic ◽  
Laboratory Data ◽  
Congenital Muscular Dystrophy ◽  
Neuromuscular Diseases ◽  
Muscular Hypotonia ◽  
Genetic Characteristics ◽  
Progressive Muscle Weakness

Congenital muscular dystrophy is an extremely heterogeneous group of hereditary neuromuscular diseases that are clinically characterized by muscular hypotonia, progressive muscle weakness, and dystrophic changes in the muscles. Overlapping clinical symptoms and many genes that have to be analyzed to determine the specific form of the disease in the patient make diagnosis difficult. The molecular genetic stage of diagnosis includes many different methods depending on the clinical hypothesis and their application has not lost its relevance even in the era of massive parallel sequencing. In addition to DNA sequence analysis, the analysis of muscle protein expression can also play a significant role in the diagnosis of congenital muscular dystrophy. In the review, we will consider the most important etiological, pathophysiological, clinical and laboratory data of the main forms of congenital muscular dystrophy known today.

scholarly journals Opportunities of MRI in the early diagnosis of the progression of muscular dystrophies

2021 ◽  
Vol 17 (7) ◽  
pp. 16-19
Author(s):  
H.V. Palahuta
Keyword(s):  
Early Diagnosis ◽  
Muscle Damage ◽  
Diagnostic Method ◽  
Correct Diagnosis ◽  
Muscular Dystrophies ◽  
Resonance Imaging ◽  
Laboratory Methods ◽  
Progressive Muscle Weakness ◽  
Rare Group

Progressive muscular dystrophies are a genetically heterogeneous group of disorders characterized by progressive muscle weakness, muscle atrophy, and movement disorders. This is a rare group of pathologies that presents a diagnostic problem in the practice of a neurologist. The combination of clinical, radiological, and laboratory methods of examination plays an important role in making the correct diagnosis. Magnetic resonance imaging of muscles is used to diagnose primary muscle damage based on specific patterns of muscle damage. In this article, we will briefly discuss the opportunities of early diagnosis of muscular dystrophies and note the role of MRI of muscles as a highly informative diagnostic method in progressive muscle diseases.

scholarly journals Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies

2021 ◽  
Vol 22 (10) ◽  
pp. 5276
Author(s):  
Coralie Croissant ◽  
Romain Carmeille ◽  
Charlotte Brévart ◽  
Anthony Bouter
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Genetic Disorders ◽  
Muscle Cells ◽  
Cell Types ◽  
Clinical Severity ◽  
Skeletal Muscle Cells ◽  
Muscular Dystrophies ◽  
Membrane Repair ◽  
Human Skeletal Muscle Cells

Muscular dystrophies constitute a group of genetic disorders that cause weakness and progressive loss of skeletal muscle mass. Among them, Miyoshi muscular dystrophy 1 (MMD1), limb girdle muscular dystrophy type R2 (LGMDR2/2B), and LGMDR12 (2L) are characterized by mutation in gene encoding key membrane-repair protein, which leads to severe dysfunctions in sarcolemma repair. Cell membrane disruption is a physiological event induced by mechanical stress, such as muscle contraction and stretching. Like many eukaryotic cells, muscle fibers possess a protein machinery ensuring fast resealing of damaged plasma membrane. Members of the annexins A (ANXA) family belong to this protein machinery. ANXA are small soluble proteins, twelve in number in humans, which share the property of binding to membranes exposing negatively-charged phospholipids in the presence of calcium (Ca2+). Many ANXA have been reported to participate in membrane repair of varied cell types and species, including human skeletal muscle cells in which they may play a collective role in protection and repair of the sarcolemma. Here, we discuss the participation of ANXA in membrane repair of healthy skeletal muscle cells and how dysregulation of ANXA expression may impact the clinical severity of muscular dystrophies.

scholarly journals Changes of Dorsal Root Ganglion Volume in Dogs with Clinical Signs of Degenerative Myelopathy Detected by Water-Excitation Magnetic Resonance Imaging

Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1702
Author(s):  
Eiji Naito ◽  
Kohei Nakata ◽  
Yukiko Nakano ◽  
Yuta Nozue ◽  
Shintaro Kimura ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Spinal Cord ◽  
Magnetic Resonance ◽  
Clinical Signs ◽  
Intervertebral Disc Herniation ◽  
Resonance Imaging ◽  
Diagnostic Potential ◽  
Water Excitation ◽  
Spinal Cord Segment ◽  
Degenerative Myelopathy

Canine degenerative myelopathy (DM) is a progressive and fatal neurodegenerative disease. However, a definitive diagnosis of DM can only be achieved by postmortem histopathological examination of the spinal cord. The purpose of this study was to investigate whether the volumetry of DRG using the ability of water-excitation magnetic resonance imaging (MRI) to visualize the DRG in dogs has premortem diagnostic value for DM. Eight dogs with DM, twenty-four dogs with intervertebral disc herniation (IVDH), and eight control dogs were scanned using a 3.0-tesla MRI system, and water-excitation images were obtained to visualize and measure the volume of DRG, normalized by body surface area. The normalized mean DRG volume between each spinal cord segment and mean volume of all DRG between T8 and L2 in the DM group was significantly lower than that in the control and the IVDH groups (P = 0.011, P = 0.002, respectively). There were no correlations within the normalized mean DRG volume between DM stage 1 and stage 4 (rs = 0.312, P = 0.128, respectively). In conclusion, DRG volumetry by the water-excitation MRI provides a non-invasive and quantitative assessment of neurodegeneration in DRG and may have diagnostic potential for DM.

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

2016 ◽  
Vol 79 (5) ◽  
pp. 854-864 ◽  
Author(s):  
Giorgio Tasca ◽  
Mauro Monforte ◽  
Pierfrancesco Ottaviani ◽  
Marco Pelliccioni ◽  
Roberto Frusciante ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Clinical Trials ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Large Cohort ◽  
Resonance Imaging

scholarly journals Anterior cruciate ligament ganglion: case report

2002 ◽  
Vol 120 (6) ◽  
pp. 195-197 ◽  
Author(s):  
André Pedrinelli ◽  
Fábio Bonini Castellana ◽  
Ricardo Bragança de Vasconcellos Fontes ◽  
Rafael Ferreira Coelho ◽  
Luiz Álvaro de Menezes F°.
Keyword(s):  
Magnetic Resonance Imaging ◽  
Anterior Cruciate Ligament ◽  
Case Report ◽  
Magnetic Resonance ◽  
Cruciate Ligament ◽  
Clinical Signs ◽  
Left Knee ◽  
Pathological Examination ◽  
Resonance Imaging ◽  
Anterior Cruciate

CONTEXT: A ganglion is a cystic formation close to joints or tendinous sheaths, frequently found in the wrist, foot or knee. Intra-articular ganglia of the knee are rare, and most of them are located in the anterior cruciate ligament. The clinical picture for these ganglia comprises pain and movement restrictions in the knee, causing significant impairment to the patient. Symptoms are non-specific, and anterior cruciate ligament ganglia are usually diagnosed through magnetic resonance imaging or arthroscopy. Not all ganglia diagnosed through magnetic resonance imaging need to undergo surgical treatment: only those that cause clinical signs and symptoms do. Surgical results are considered good or excellent in the vast majority of cases. CASE REPORT: A 29-year-old male presented with pain in the left knee during a marathon race. Physical examination revealed limitation in the maximum range of knee extension and pain in the posterior aspect of the left knee. Radiographs of the left knee were normal, but magnetic resonance imaging revealed a multi-lobed cystic structure adjacent to the anterior cruciate ligament, which resembled a ganglion cyst. The mass was removed through arthroscopy, and pathological examination revealed a synovial cyst. Patient recovery was excellent, and he resumed his usual training routine five months later.

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