Diagnostic value of muscle biopsy for neuromuscular diseases

2017 ◽  
Vol 381 ◽  
pp. 473-474
Author(s):  
S. Kimura ◽  
H. Nakanishi ◽  
S. Noda ◽  
A. Murakami ◽  
M. Iijima ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value

scholarly journals The diagnostic value of vacuolar characterization in muscular biopsy in Pompe's Disease

2021 ◽  
Vol 29 ◽  
pp. 1-20
Author(s):  
Beatriz Akemi Gonçalves ◽  
Acary Souza Bulle de Oliveira
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value ◽  
Mitochondrial Activity ◽  
Biopsy Material ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Determining Factors ◽  
Histological Characteristics

Introduction. Through muscle biopsy we can observe the formation of vacuoles that alter the structure of cells and tissues in Pompe's disease. The presence of these vacuoles varies as the disease progresses, relating to the broad clinical spectrum presented by the disease. Objectives. After confirming the disease, examine the possibility of diagnosing or excluding the diagnosis of Pompe's disease through the vacuolar characteristics presented. Method. Analysis of the muscle biopsy material of selected patients at the Neuromuscular Diseases Investigation Clinic at the Federal University of São Paulo. Through staining and histochemical techniques, a comparative study of the histological characteristics found was performed. Results. Thirty-three biopsies had the diagnosis of Pompe's disease confirmed, being 13 women and 20 men. Of this group, 23 received the diagnosis when they were 18 years old or more, and 10 received the diagnosis under the age of 18 years. Delimiting membrane and subsarcolemal location were the main vacuolar characteristic found, manifesting in 86.6% of the studied cases. Integration between the vacuole membranes was observed in 62.5% of the cases. We also found necrosis, replacement of muscle tissue by connective or adipose tissue, increased mitochondrial activity and absence of predominance in one type of fiber. Conclusion. Muscle biopsy allows to analyze a series of peculiarities presented by vacuoles in Pompe's Disease and, thus, it proves to be a sure technique, allowing to reach a quick conclusion and to identify determining factors for the clinical conduct and maintenance of quality of life of the patient with Pompe's disease.

scholarly journals Yield of Muscle Biopsy in Patients with Findings of Myopathy on Electrodiagnostic Testing

2019 ◽  
Vol 10 (03) ◽  
pp. 489-493 ◽  
Author(s):  
Sarah Hasan Siddiqui ◽  
Raheel Ahmed ◽  
Safia Awan ◽  
Ambreen Zain ◽  
Sara Khan
Keyword(s):  
Muscle Biopsy ◽  
Clinical Laboratory ◽  
Diagnostic Yield ◽  
Care Center ◽  
Tertiary Care ◽  
Neuromuscular Diseases ◽  
Genetic Tests ◽  
Factors Affecting ◽  
Electrodiagnostic Testing ◽  
Hereditary Myopathy

Abstract Background The evaluation of neuromuscular diseases includes detailed clinical assessment, blood testing, electrodiagnostic studies (EDS), biopsy, and genetic tests. EDS alone cannot provide a specific diagnosis. Further testing in the form of genetic tests or muscle biopsy (MB) is required. Objective The objective of the study is to evaluate the yield of MB in patients with findings of myopathy on electrodiagnostic testing and assess the factors affecting an abnormal biopsy outcome. Methods Electromyography (EMG)/nerve conduction studies (NCS) performed for suspected myopathy over 5 years from 2011 to 2016, at the neurophysiology department of a tertiary care center in Pakistan, were reviewed. Based on inclusion criteria, records of 58 patients were retrospectively reviewed. Results After an EMG/NCS diagnosis of myopathy, the frequency of MB testing was only 10.1%. The median age of patients was 26.5 years. The clinically suspected diagnosis was categorized into hereditary myopathy (n = 15, 25.9%) and acquired myopathy (n = 18, 31%). The positive predictive value of EMG is 77.2%. Twenty-eight (48.2%) patients had abnormal MB whereas 20 (34.4%) revealed normal findings. Factors significantly influencing an abnormal outcome of biopsy included moderate-to-severe elevation of creatine kinase (>2,000 U/L),presence of denervation changes, and severe myopathy on EMG. Conclusion Even though the overall yield of MB testing may not be very high in our setting due to the unavailability of special techniques and expertise, certain factors can help to improve the diagnostic yield. Clinicians should encourage MB testing, especially in cases with strong clinical, laboratory and electrodiagnostic suspicion, and absence of genetic testing for suspected myopathy.

Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review

2018 ◽  
Vol 53 (3) ◽  
pp. 489-492 ◽  
Author(s):  
Sivapol Thavorntanaburt ◽  
Jantima Tanboon ◽  
Surachai Likasitwattanakul ◽  
Tumtip Sangruchi ◽  
Ichizo Nishino ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Critical Review ◽  
Neuromuscular Diseases ◽  
Diagnosis And Management

scholarly journals The diagnostic value of perivascular infiltrates in muscle biopsy specimens for the assessment of rheumatoid vasculitis

1998 ◽  
Vol 57 (2) ◽  
pp. 114-117 ◽  
Author(s):  
A. E Voskuyl ◽  
S. G van Duinen ◽  
A. H Zwinderman ◽  
F. C Breedveld ◽  
J. M W Hazes
Keyword(s):  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Rheumatoid Vasculitis ◽  
Biopsy Specimens

scholarly journals Optimization of the pre-analytical stage of material processing for histochemical examination of skeletal muscle biopsies in the diagnosis of neuromuscular diseases

2019 ◽  
Vol 9 (2) ◽  
pp. 21-29
Author(s):  
A. M. Sycheva ◽  
V. D. Nazarova ◽  
S. V. Lapin ◽  
M. G. Rybakova ◽  
D. I. Rudenko
Keyword(s):  
Skeletal Muscle ◽  
Muscle Biopsy ◽  
Morphological Changes ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Optimal Method ◽  
Tissue Samples ◽  
Important Place ◽  
Skeletal Muscle Biopsy ◽  
Muscle Biopsies

Diagnosis of neuromuscular diseases is complicated by the variety of clinical manifestations and requires the use of additional methods, an important place among which is the pathomorphological study of skeletal muscle biopsy. Despite the fact that the procedure for taking a muscle biopsy is not technically difficult, to obtain informative material a multitude of conditions must be observed at the stages of pre-analytical processing of the obtained tissue samples. Violation of the technology of taking, storing and fixing the material contributes to the formation of artifacts that limit the possibilities for further analysis of the morphological changes in tissue biopsy. A comparison was made of the effectiveness of various methods for cryoprocessing of muscle tissue samples and the manufacture of histological specimens with a subsequent assessment of morphological changes. As a result, the main causes of artifacts were identified. The optimal method for processing muscle biopsy specimens is indicated, which makes it possible to prevent the appearance of artifacts as much as possible and to ensure the preservation of tissue for research.

scholarly journals myoMIR and gene expression in myofibrillar myopathy

2021 ◽  
Author(s):  
Matheus Moreira Perez ◽  
David Feder, Beatriz da Costa Aguiar Alves ◽  
Fernando Luiz Affonso Fonseca ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Gene Expression ◽  
Mrna Expression ◽  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Included Study ◽  
Control Group ◽  
Protective Function ◽  
Muscle Disorders ◽  
Skeletal Tissue ◽  
Student’S T

Background: Myofibrillar myopathies (MFM) represent a heterogeneous group of muscle disorders caused by mutations in different genes. It has been identified a group of microRNAs present in muscles named myoMIR. Objective: Evaluate the diagnostic value of these myoMIRs and mRNA expression in skeletal tissue from muscle biopsy of patients with MFM. Design and Setting: Muscle biopsies from 16 MFM patients with mutations in Desmin (DES), Myotilin (MYOT), ZASP, or Filamin C (FLNC) genes, and 18 donors (patients with minimal non- specific changes in muscle biopsy) were included. Study were conducted at FMABC. Methods: mRNA and myoMIR expression from both groups were assessed. The target myoMIRs were MIR1, MIR133a, MIR133b, MIR206, MIR208a, MIR208b, MIR486, and MIR499. Anova and Student’s t-test were performed. Results: Six patients presented mutations in DES, five in ZASP, three in FLNC, and two in MYOT. MIR133b (p=0.05), MIR499 (p=0.027), and mRNA expression was up-regulated in patients with MFM. MIR208a (p=0.042) was higher in the control group. We found an association between MIR133a and the presence of mutations in all genes studied (p=0.006). A relation between MIR486 and mutations in ZASP and DES (p=0.035) was also noted. Conclusions: • MIR208a seems to have a protective function in the muscle fiber; • Heterogeneity could be related to the concentration of gene expression in each patient; • Expression of myoMIRs influences several aspects in the muscle function through genes modulation which are important to myogenesis control;

External and Internal Influences on Muscle Pathology

2012 ◽  
Vol 136 (8) ◽  
pp. 927-934 ◽  
Author(s):  
Paul E. McKeever ◽  
Sandra Camelo-Piragua ◽  
James Dowling
Keyword(s):  
Muscle Biopsy ◽  
Motor Nerve ◽  
Muscle Fibers ◽  
Neuromuscular Diseases ◽  
Muscle Pathology ◽  
Etiologic Factor ◽  
Fiber Types ◽  
Intrinsic Muscle ◽  
Histologic Pattern ◽  
Cellular Necrosis

Three cases of different types of neuromuscular diseases demonstrate different muscle responses to external stress or intrinsic muscle abnormalities. The first muscle biopsy shows stenosis of its vessels causing acute muscle ischemia, stress from an external vascular disease. The muscle response is similar to the cellular necrosis seen in primary muscle diseases (myopathies), but the histologic pattern is more focal than most myopathies. The second muscle biopsy demonstrates the effects of external motor nerve injury or disease causing groups of muscle fibers to atrophy. If a nerve reinnervates the muscle, it changes the fiber types in distinct patterns. The third muscle biopsy shows an intrinsic muscle abnormality causes chronic failure of the muscle fibers to thrive and repeated attempts by the fibers to regenerate, stimulating other tissue repair processes, like fibrosis, to change the muscle. Depending on the etiologic factor, muscle will respond to internal and external influences in different manners.

scholarly journals Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe

2014 ◽  
Vol 27 (4) ◽  
pp. 525 ◽  
Author(s):  
Luís Brito-Avô ◽  
José Delgado Alves ◽  
João Matos Costa ◽  
Ana Valverde ◽  
Lélita Santos ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Pompe Disease ◽  
Storage Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Neuromuscular Diseases ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Diagnostic Challenge

<strong>Introduction:</strong> Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.<br /><strong>Objective:</strong> To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.<br /><strong>Material and Methods:</strong> Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting.<br /><strong>Recommendations:</strong> Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.<br /><strong>Keywords:</strong> Age of Onset; Consensus; Glycogen Storage Disease Type II.

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita

2003 ◽  
Vol 54 (6) ◽  
pp. 790-795 ◽  
Author(s):  
Peter B. Kang ◽  
Hart G. W. Lidov ◽  
William S. David ◽  
Alcy Torres ◽  
Douglas C. Anthony ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Arthrogryposis Multiplex Congenita
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