Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This chapter contains 3 highly rendered figures, 4 tables, 107 references, and 5 MCQs.

Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This chapter contains 3 highly rendered figures, 4 tables, 107 references, and 5 MCQs.

Myopathies

2015 ◽  
Author(s):  
Thomas I. Cochrane ◽  
Anthony A Amato
Keyword(s):  
Immunosuppressive Drug ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Myofibrillar Myopathy ◽  
Genetic Classification ◽  
Drug Induced ◽  
Metabolic Myopathies ◽  
Skeletal Muscle Weakness ◽  
Periodic Paralyses

Muscle disease (myopathy) can be acquired or hereditary. Symptoms include skeletal muscle weakness, atrophy, muscle cramps or myalgias, and impaired function of respiratory, pharyngeal, facial, or ocular muscles. Clinicians must identify treatable myopathies and initiate therapy before permanent weakness occurs. For patients with untreatable disorders, proper supportive care, rehabilitation, genetic counseling, and psychological support are critical. This chapter covers common myopathies, including muscular dystrophies; malignant hyperthermia; metabolic myopathies; mitochondrial myopathies and encephalopathies; ion channelopathies, periodic paralyses, and nondystrophic myotonias; and drug-induced myopathies. Clinical presentation, diagnosis, pathogenesis, and therapy are emphasized. Tables describe genetic classification of the limb-girdle and distal muscular dystrophies; proteins involved in myofibrillar myopathy; other distal myopathies; and antirheumatic, antiinflammatory, and immunosuppressive drug-induced myopathy. Figures show the sarcolemmal membrane and enzymatic proteins associated with muscular dystrophies, sarcomeric and nuclear proteins associated with muscular dystrophies, and major metabolic pathways used by muscle. This review contains 3 highly rendered figures, 4 tables, and 107 references.

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.

Revised Genetic Classification of Limb Girdle Muscular Dystrophies

2014 ◽  
Vol 14 (8) ◽  
pp. 934-943 ◽  
Author(s):  
F. Magri ◽  
S. Brajkovic ◽  
A. Govoni ◽  
R. Brusa ◽  
G.P. Comi
Keyword(s):  
Muscular Dystrophies ◽  
Genetic Classification

Dystrophinopathies and Limb-Girdle Muscular Dystrophies

2017 ◽  
Vol 48 (04) ◽  
pp. 262-272 ◽  
Author(s):  
Anna Sarkozy ◽  
Mariacristina Scoto ◽  
Francesco Muntoni ◽  
Joana Domingos
Keyword(s):  
Clinical Trials ◽  
Treatment Options ◽  
Shoulder Girdle ◽  
Muscle Disease ◽  
Standards Of Care ◽  
Muscular Dystrophies ◽  
New Treatment ◽  
Shoulder Girdle Muscles ◽  
Independent Ambulation ◽  
Duchenne's Muscular Dystrophy

AbstractMuscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood. The current standards of care considerably prolong independent ambulation and survival. Several therapeutic options either aiming at substituting/correcting the primary protein defect or limiting the progression of the dystrophic process are currently being explored in clinical trials.Limb-girdle muscular dystrophies (LGMDs) are rare and heterogeneous conditions, characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Originally classified into dominant and recessive, > 30 genetic forms of LGMDs are currently recognized. Further understanding of the pathogenic mechanisms of LGMD will help identifying novel therapeutic approaches that can be tested in clinical trials.

LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 382-384
Author(s):  
S. C.
Keyword(s):  
Peripheral Nerves ◽  
Neuromuscular Disorders ◽  
Serum Enzymes ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Muscular Weakness ◽  
Conduction Velocities ◽  
Clinical Awareness ◽  
Muscle Biopsies

The current literature reflects the interest of pediatricians, neurologists, and internists in the neuromuscular disorders of childhood.1-5 Clinical awareness and the availability and refinement of ancillary procedures, such as electromyography, measurement of nerve conduction velocities, determination of serum enzymes and muscle biopsies, have made it possible to differentiate many of these conditions and correctly localize the pathology of these lower motor neuron disorders to the anterior horn cells, the peripheral nerves, and/or the muscles.1 Primary muscle disease is the most frequent cause of progressive muscular weakness in children with neuromuscular disorders.2 The primary myopathies are either hereditary or acquired. The muscular dystrophies and the myotonic syndrome are representative of the genetic variety, while the acquired disorders are recognized clinically as polymyositis and dermatomyositis.

Abstract 2276: Genetic classification of colorectal cancer

2021 ◽  
Author(s):  
Yoshikage Inoue ◽  
Nobuyuki Kakiuchi ◽  
Kenichi Yoshida ◽  
Yasuhito Nanya ◽  
Yusuke Shiozawa ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Classification
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