Muscle Disease

2008 ◽  
pp. 351-373
Keyword(s):  
Muscle Disease

Z-line degradation and phagocytosis of sarcomeric fragments in myonecrosis

1983 ◽  
Vol 41 ◽  
pp. 790-791
Author(s):  
Melinda L. Estes ◽  
Samuel M. Chou
Keyword(s):  
Vastus Lateralis ◽  
Inflammatory Myopathy ◽  
Muscle Disease ◽  
White Female ◽  
Inflammatory Cell Infiltrate ◽  
Limb Weakness ◽  
Muscle Diseases ◽  
History Of ◽  
The Right ◽  
Mononuclear Inflammatory Cell

Many muscle diseases show common pathological features although their etiology is different. In primary muscle diseases a characteristic finding is myofiber necrosis. The mechanism of myonecrosis is unknown. Polymyositis is a primary muscle disease characterized by acute and subacute degeneration as well as regeneration of muscle fibers coupled with an inflammatory infiltrate. We present a case of polymyositis with unusual ultrastructural features indicative of the basic pathogenetic process involved in myonecrosis.The patient is a 63-year-old white female with a one history of proximal limb weakness, weight loss and fatigue. Examination revealed mild proximal weakness and diminished deep tendon reflexes. Her creatine kinase was 1800 mU/ml (normal < 140 mU/ml) and electromyography was consistent with an inflammatory myopathy which was verified by light microscopy on biopsy muscle. Ultrastructural study of necrotizing myofiber, from the right vastus lateralis, showed: (1) degradation of the Z-lines with preservation of the adjacent Abands including M-lines and H-bands, (Fig. 1), (2) fracture of the sarcomeres at the I-bands with disappearance of the Z-lines, (Fig. 2), (3) fragmented sarcomeres without I-bands, engulfed by invading phagocytes, (Fig. 3, a & b ), and (4) mononuclear inflammatory cell infiltrate in the endomysium.

POPDC proteins and cardiac function

2019 ◽  
Vol 47 (5) ◽  
pp. 1393-1404 ◽  
Author(s):  
Thomas Brand
Keyword(s):  
Potential Role ◽  
Striated Muscle ◽  
Short Review ◽  
Effector Proteins ◽  
Muscle Disease ◽  
Disease Genes ◽  
Protein Protein Interaction ◽  
Interaction Partners ◽  
And Function

Abstract The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein–protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.

Wurmartige Muskelbewegungen bei elektrischer Stille – Rippling Muscle Disease

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
C Eggers ◽  
S Iglseder ◽  
S Weis ◽  
C Kubisch ◽  
BGH Schoser
Keyword(s):  
Muscle Disease

Retinol, α-Tocopherol and Vitamin D3 in White MuscleDisease

2018 ◽  
Vol 74 (1) ◽  
pp. 6029-2018
Author(s):  
HANDAN MERT ◽  
SERKAN YİLDİRİM ◽  
IBRAHİM HAKKİ YORUK ◽  
KİVANC IRAK ◽  
BAHAT COMBA ◽  
...  
Keyword(s):  
Vitamin A ◽  
Vitamin D3 ◽  
White Muscle ◽  
Bone Structure ◽  
Early Stage ◽  
Vitamin A Deficiency ◽  
Muscle Disease ◽  
Control Group ◽  
White Muscle Disease ◽  
Fat Soluble Vitamins

Vitamins are essential for the health of all living organisms. Vitamins E, A, D and K are known as fat-soluble vitamins, and deprivation of vitamin E causes various disorders, especially in the reproduction and cardiovascular systems and in muscle functions. Vitamin A, on the other hand, has roles in various biological functions – like eyesight – and the growth, reproduction and differentiation of epithelial cells. Vitamin A deficiency leads to the keratinization of the epithelium, and disorders related to the metaplasies of the genital and genitourinary systems. Conversely, vitamin D is defined as a pro-hormone and is responsible for Cahomeostasis, and thus indirectly affects the bone metabolism, bone structure, and cellular and neural functions of Ca. White muscle disease (WMD) can occur in newborn lambs, but is more commonly seen in lambs of up to 3 months of age. In this study, 30 lambs of 3 to 50-days-old from different flocks diagnosed with White Muscle Disease (WMD) were selected as research material, while the control group consisted of 8 healthy lambs. With the aim of clarifying the cause of WMD, serum fat-soluble vitamins, retinol, α-tocopherol and vitamin D3 levels were determined in 16 lambs. Gluteal and heart musclet issue samples also were taken from 30 lambs with WMD. The vitamin levels of the samples were analysed by HPLC. The levels of serum α-tocopherol, retinols, and vitamin D3 were foundto be low in the diseased animals, but only retinol (p<0.001) and α-tocopherol (p<0.0011) level differences were statistically relevant. Macroscopically, Zenker’s necrosis was determined in the heart muscles of 17 lambs, and in the gluteal and chest muscles of 6 lambs. 7 lambs displayed necrosis in both their heart and in gluteal muscles. The samples were analyzed microscopically to reach similar findings: swollen homogeneous pink muscles, pycnotic nuclei, and hyperaemic and haemorrhagic blood vessels in gluteal, chest and heart muscles. Hyaline degeneration and Zenker's necrosis, dystrophic regions in necrotic areas, cc was detected as a severe disease in lambs at an early stage of life with advanced degeneration in different muscle tissues. Deficiency of fat-soluble vitamins was also detected in the sick animals. Control group lambs had higher levels of α tocopherol and retinol (p<0.001) compared to the sick lambs. .

scholarly journals Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shu Zhang ◽  
◽  
Dongdong Qin ◽  
Liwen Wu ◽  
Man Li ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Hazard Ratio ◽  
Large Cohort ◽  
Muscle Disease ◽  
Clinical Progression ◽  
Large Deletions ◽  
The Mean ◽  
Lower Hazard

Abstract Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulation by glucocorticoid (GC) treatments. This is to facilitate protocol designs and outcome measures for the emerging DMD clinical trials. Results A total of 1163 patients with DMD were recruited and genotyped. Genotype variations were categorized as large deletions, large duplications, and small mutations. Large deletions were further analyzed for those amenable to exon-skipping therapies. Participants aged 5 years or older were grouped into GC-treated and GC-naïve groups. Clinical progression among different genotypes and their responses to GC treatments were measured by age at loss of ambulation (LOA). Among the mutation genotypes, large deletions, large duplications, and small mutations accounted for 68.79%, 7.14%, and 24.07%, respectively. The mean age at diagnosis was 4.59 years; the median ages at LOA for the GC-naïve, prednisone/prednisolone-treated, and deflazacort-treated groups were 10.23, 12.02, and 13.95 years, respectively. The “deletion amenable to skipping exon 44” subgroup and the nonsense-mutation subgroup had older ages at LOA than the “other deletions” subgroup. Subgroups were further analyzed by both genotypes and GC status. All genotypes showed significant beneficial responses to GC treatment. Deletions amenable to skipping exon 44 showed a lower hazard ratio (0.155). The mean age at death was 18.57 years in this DMD group. Conclusion Genotype variation influences clinical progression in certain DMD groups. Beneficial responses to GC treatment were observed among all DMD genotypes. Compared with other genotypes, deletions amenable to skipping exon 44 had a lower hazard ratio, which may indicate a stronger protective effect of GC treatments on this subgroup. These data are valuable for designing future clinical trials, as clinical outcomes may be influenced by the genotypes.

Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies

2018 ◽  
Vol 52 (2) ◽  
pp. 174-180 ◽  
Author(s):  
Agnieszka Madej-Pilarczyk ◽  
Michał Marchel ◽  
Karolina Ochman ◽  
Joanna Cegielska ◽  
Roman Steckiewicz
Keyword(s):  
Skeletal Muscle ◽  
Cardiac Disease ◽  
Muscle Disease ◽  
Diagnostic Approach

scholarly journals Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
David Y. Barefield ◽  
Jordan J. Sell ◽  
Ibrahim Tahtah ◽  
Samuel D. Kearns ◽  
Elizabeth M. McNally ◽  
...  
Keyword(s):  
Ryanodine Receptor ◽  
Calcium Binding ◽  
Physiological Role ◽  
Muscle Disease ◽  
Calcium Handling ◽  
Membrane Repair ◽  
Tubule Formation ◽  
Ec Coupling ◽  
Associated Proteins ◽  
Receptor Clusters

AbstractMuscular dystrophies are disorders characterized by progressive muscle loss and weakness that are both genotypically and phenotypically heterogenous. Progression of muscle disease arises from impaired regeneration, plasma membrane instability, defective membrane repair, and calcium mishandling. The ferlin protein family, including dysferlin and myoferlin, are calcium-binding, membrane-associated proteins that regulate membrane fusion, trafficking, and tubule formation. Mice lacking dysferlin (Dysf), myoferlin (Myof), and both dysferlin and myoferlin (Fer) on an isogenic inbred 129 background were previously demonstrated that loss of both dysferlin and myoferlin resulted in more severe muscle disease than loss of either gene alone. Furthermore, Fer mice had disordered triad organization with visibly malformed transverse tubules and sarcoplasmic reticulum, suggesting distinct roles of dysferlin and myoferlin. To assess the physiological role of disorganized triads, we now assessed excitation contraction (EC) coupling in these models. We identified differential abnormalities in EC coupling and ryanodine receptor disruption in flexor digitorum brevis myofibers isolated from ferlin mutant mice. We found that loss of dysferlin alone preserved sensitivity for EC coupling and was associated with larger ryanodine receptor clusters compared to wildtype myofibers. Loss of myoferlin alone or together with a loss of dysferlin reduced sensitivity for EC coupling, and produced disorganized and smaller ryanodine receptor cluster size compared to wildtype myofibers. These data reveal impaired EC coupling in Myof and Fer myofibers and slightly potentiated EC coupling in Dysf myofibers. Despite high homology, dysferlin and myoferlin have differential roles in regulating sarcotubular formation and maintenance resulting in unique impairments in calcium handling properties.

scholarly journals Muscle biopsy essential diagnostic advice for pathologists

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Jaquelin Valicek ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Liquid Nitrogen ◽  
Muscle Biopsy ◽  
Diagnostic Procedures ◽  
Mitochondrial Respiratory Chain ◽  
Muscle Disease ◽  
Diagnostic Workup ◽  
Main Body ◽  
Mitochondrial Myopathies ◽  
Muscle Enzymes ◽  
Molecular Studies

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) to provide practical information for the team involved in the diagnosis of muscle diseases; (3) to report fundamental rules for muscle biopsy site choice and adequacy; (4) to highlight the importance of liquid nitrogen in diagnostic workup. Routine techniques include: (1) histochemical stains and reactions; (2) immunohistochemistry and immunofluorescence; (3) electron microscopy; (4) mitochondrial respiratory chain enzymatic studies; and (5) molecular studies. The diagnosis of muscle disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded muscle samples alone almost always lead to inconclusive or unspecific results. Liquid nitrogen frozen muscle sections are imperative for neuromuscular diagnosis. Muscle biopsy interpretation is possible in the context of detailed clinical, neurophysiological, and serum muscle enzymes data. Muscle imaging studies are strongly recommended in the diagnostic workup. Muscle biopsy is useful for the differential diagnosis of immune mediated myopathies, muscular dystrophies, congenital myopathies, and mitochondrial myopathies. Muscle biopsy may confirm the pathogenicity of new gene variants, guide cost-effective molecular studies, and provide phenotypic diagnosis in doubtful cases. For some patients with mitochondrial myopathies, a definite molecular diagnosis may be achieved only if performed in DNA extracted from muscle tissue due to organ specific mutation load.

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