Ultrasound of Muscular Dystrophies, Myopathies, and Muscle Pathology

2011 ◽  
pp. 131-149
Author(s):  
Craig Mitchell Zaidman
Keyword(s):  
Muscular Dystrophies ◽  
Muscle Pathology

scholarly journals FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
A. J. Wood ◽  
C. H. Lin ◽  
M. Li ◽  
K. Nishtala ◽  
S. Alaei ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Muscular Dystrophy ◽  
Basement Membrane ◽  
Clinical Outcomes ◽  
Disease Severity ◽  
Muscular Dystrophies ◽  
Muscle Pathology ◽  
New Disease ◽  
Related Protein

AbstractThe muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene. This is surprising as FKRP is a glycosyltransferase, whose only identified function is to transfer ribitol-5-phosphate to α-dystroglycan (α-DG). Although this modification is critical for extracellular matrix attachment, α-DG’s glycosylation status relates poorly to disease severity, suggesting the existence of unidentified FKRP targets. Here we reveal that FKRP directs sialylation of fibronectin, a process essential for collagen recruitment to the muscle basement membrane. Thus, our results reveal that FKRP simultaneously regulates the two major muscle-ECM linkages essential for fibre survival, and establishes a new disease axis for the muscular dystrophies.

Myology

2015 ◽  
Author(s):  
Michael Swash
Keyword(s):  
Muscular Dystrophies ◽  
Muscle Pathology ◽  
Genetic Mutations ◽  
Muscle Fibres ◽  
Myofibrillar Atpase ◽  
Histochemical Technique ◽  
Clinical Observations ◽  
Metabolic Myopathies ◽  
Underlying Processes

Diseases of muscle have become better understood by careful clinical observations, resulting in a clinically useful classification of the different groups of disorders e.g. inherited muscular dystrophies such as Duchenne muscular dystrophy, limb-girdle and metabolic myopathies, and myotonic disorders. A number of scientific approaches have determined the directions taken by this evolving classification. Understanding of the anatomy of the motor unit’s distribution in muscle transformed muscle pathology and muscle electrophysiology, and key to these pathological advances was the use of the histochemical technique for identifying myofibrillar ATPase in muscle fibres. This allowed studies of the distribution of fibre types in muscle in many different disorders. The inflammatory muscle diseases have been better understood since recent advances in immunology have characterized the underlying processes. The limb-girdle and childhood myopathies have proven to be heterogeneous, with many different, apparently causative, underlying genetic mutations.

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

2017 ◽  
Vol 48 (04) ◽  
pp. 233-241 ◽  
Author(s):  
Jodi Warman Chardon ◽  
Volker Straub
Keyword(s):  
Imaging Techniques ◽  
Diagnostic Testing ◽  
Invasive Procedure ◽  
Initial Step ◽  
Fatty Degeneration ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Muscle Pathology ◽  
Muscle Mri ◽  
Variant Of Uncertain Significance

AbstractMuscle magnetic resonance imaging (MRI) and ultrasound (US) are emerging tools to assist in the diagnosis of children with genetic muscle disease. Increasing number of studies demonstrate that these imaging techniques can identify selective patterns of muscle atrophy, fatty degeneration, and muscle edema that help to distinguish between different early-onset genetic myopathies and muscular dystrophies. Recognizing patterns of pathology by muscle imaging can help to guide genetic testing and avoid the more invasive procedure of a muscle biopsy. Conversely, since massive parallel sequencing is now more commonly used as the initial step in diagnostic testing, imaging techniques can help to confirm or exclude if a variant of uncertain significance is indeed disease causing and compatible with a pattern of pathology as detected by muscle imaging. Whereas for diagnostic purposes and pattern recognition, muscle pathology does not need to be quantified, measuring disease progression is increasingly supported by quantitative muscle imaging, which is critical given the recent increment in rare disease therapeutic trials. Here, we discuss the value of muscle imaging techniques in pediatric muscle disease and summarize data identifying specific patterns of involvement in muscle MRI and US in some of the more common genetic myopathies and muscular dystrophies.

A 10-YEAR EXPERIENCE OF MOLECULAR TESTING IN DMD/BMD MUSCULAR DYSTROPHIES IN GREECE

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
K Kekou ◽  
C Sofocleous ◽  
N Bogiatzakis ◽  
H Frissira ◽  
S Youroukos ◽  
...  
Keyword(s):  
Muscular Dystrophies ◽  
Molecular Testing

Skeletal Muscle Pathology

Pathology ◽  
1983 ◽  
Vol 15 (4) ◽  
pp. 511
Author(s):  
J.G. McLeod
Keyword(s):  
Skeletal Muscle ◽  
Muscle Pathology

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.

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