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Books on the topic 'Dystrophic muscle'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Yeung, Davy. Molecular and functional analysis of the purinergic P2X receptors in normal and dystrophic skeletal muscle: A thesis. Portsmouth: University of Portsmouth, School of Pharmacy and Biomedical Sciences, 2004.

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2

Bestard, Jennifer. Dystrophin gene regulation in muscle. Ottawa: National Library of Canada, 2000.

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3

1934-, Ozawa Eijirō, Masaki Tomoh, and Nabeshima Yoichi, eds. Frontiers in muscle research: Myogenesis, muscle contraction, and muscle dystrophy : proceedings of the Uehara Memorial Foundation Symposium on Frontiers in Muscle Research, Tokyo, 15-19 July 1990. Amsterdam: Excerpta Medica, 1991.

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4

C, Strohman Richard, Wolf Stewart 1914-, and Muscular Dystrophy Association, eds. Gene expression in muscle. New York: Plenum Press, 1985.

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5

Duan, Dongsheng. Muscle gene therapy. New York: Springer, 2010.

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6

Myoblast transfer: Gene therapy for muscular dystrophy. Austin: R.G. Landes, 1994.

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7

Manchev, Ivan. Systematic hereditary degenerative and dystrophic diseases of the nervous and muscular system. Central Milton Keynes: AuthorHouse, 2007.

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8

International Symposium on Oculopharyngeal Muscular Dystrophy (1st 1995 Québec). Oculopharyngeal muscular dystrophy: Proceedings of the First International Symposium on Oculopharyngeal Muscular Dystrophy, Québec, 22-23 September 1995. Edited by Bouchard Jean Pierre, Brais Bernard, and Tomé Fernando. London: Pergamon, 1997.

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9

Muscle gene therapy: Methods and protocols. New York, NY: Humana, 2011.

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10

Charles, Emerson, Hoffmann-La Roche inc, and University of California, Los Angeles., eds. Molecular biology of muscle development: Proceedings of a Roche-UCLA Symposium, held in Park City, Utah, March 15-22, 1985. New York: A.R. Liss, 1986.

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11

International, Symposium on Muscle Diseases and Their Treatment with Special Reference to Different Types of Muscular Dystrophy (1998 Uppsala Sweden). International Symposium on Muscle Diseases and Their Treatment with Special Reference to Different Types of Muscular Dystrophy: In Uppsala, 1998. Oslo: Scandinavian University Press, 1999.

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12

Muscular Dystrophy Association International Conference on Myoblast Transfer Therapy (1989 New York, N.Y.). Myoblast transfer therapy. New York: Plenum Press, 1990.

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13

Muscular, Dystrophy Association-UCLA Symposium (1988 Steamboat Springs Colo ). Cellular and molecular biology of muscle development: Proceedings of a Muscular Dystrophy Association-UCLA Symposium, held at Steamboat Springs, Colorado, April 3-10, 1988. New York: Liss, 1989.

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14

Nageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson, and David Ledingham. Disorders of muscle and neuromuscular junction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199664368.003.0008.

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This chapter discusses the clinical features and evidence base for the pharmacological treatment of muscular disorders (inflammatory myopathies: polymyositis, dermatomyositis, and inclusion body myositis), mitochondrial myopathies, Duchenne muscular dystrophy (DMD), myotonic dystrophy, inherited neuromuscular channelopathies, non-dystrophic myotonias (myotonia congenita, paramyotonia congenita), periodic paralyses, acquired neuromyotonia (Isaac syndrome and Morvan syndrome), stiff person syndrome, and disorders of the neuromuscular junction (myasthenia gravis (MG), myasthenic crisis, and Lambert–Eaton myasthenic syndrome (LEMS).

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15

Hardiman, Orla. Pharmacological modulation of human myoblast differentiation in vitro: An analysis of differences between myoblasts from non-dystrophic and Duchenne muscular dystrophy muscle. 1991.

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16

Sutherland, Tori N., and Kirk Lalwani. Duchenne’s Muscular Dystrophy. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0035.

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Duchenne’s muscular dystrophy (DMD) is a progressive X-linked recessive disorder that affects boys and female carriers. It is the most common dystrophy with onset in childhood in the United States. It is associated with severe, progressive proximal muscle weakening due to absence of dystrophin, which is found in skeletal and cardiac muscles This chapter presents a review of anesthetic considerations for patients with DMD in the context of the disease’s natural history with special consideration for cardiomyopathy evaluation and management, restrictive lung disease evaluation, and management and postoperative ventilation. The chapter covers an overview of the disease; etiology and pathogenesis; cognitive, neuromuscular, cardiac, and pulmonary clinical presentation; diagnosis and management; and special anesthetic considerations.

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17

Brady, Stefen, and David Hilton-Jones. Muscular dystrophies and other genetic myopathies. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0006.

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Muscular dystrophies are a genetically and phenotypically heterogeneous group of progressive muscle diseases. Modern molecular genetic techniques have made it possible to clarify the genetic mutations responsible for most muscular dystrophies. Despite advances in genetics, the importance of the clinical history and physical examination has increased rather than diminished. It is only through correctly identifying the clinical features that the appropriate diagnostic investigations will be performed. Although muscular dystrophies are typically slowly progressive disorders in which muscle atrophy and weakness are the defining characteristics, diagnostic confusion with the idiopathic inflammatory myopathies (IIM) can occur, and a diagnosis of muscular dystrophy may be considered only after the failure of immunosuppressive treatment for a presumed case of IIM. This chapter reviews the various muscular dystrophies, and discusses how to differentiate between them and the IIM.

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18

Two cases of early atrophy of muscles in cerebral disease. [S.l: s.n., 1985.

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19

Swash, Michael. Myology. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0012.

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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.

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20

Skeletal Muscle Muscular Dystrophy A Visual Approach. Morgan & Claypool Publishers, 2011.

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21

Johnson, Andrea. Myotonic Dystrophy. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0034.

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Myotonic dystrophy (DM) is a multisystemic autosomal dominant disorder. Individuals may present with symptoms at any age, but pediatric patients typically will present before 10 years of age. The clinical features of DM differ depending on the type of dystrophy and include skeletal muscle weakness, myotonia, sleep apnea, decreased gastrointestinal motility, insulin hypersecretion, cardiac conduction abnormalities, and occasionally cognitive impairment. Anesthetic management of the patient with DM should begin in the preoperative arena and should take into account the postoperative considerations and concerns for the patient with DM. This chapter will help the clinician develop an appropriate anesthetic plan and implement a safe and effective perioperative experience.

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22

Tennyson, Christine Nathalice. Synthesis, splicing, and stability of dystrophin gene products in muscle. 1996.

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23

Lilleker, James B., and Mark E. Roberts. Metabolic myopathies. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0005.

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Metabolic myopathies are caused by defects in the metabolic processes of energy storage and utilization, and can present with exercise intolerance, fatigue, muscle pain, and weakness. Metabolic myopathies are rare and can be difficult to diagnose. However, the clinical presentation can be similar to, and thus mimic, both the idiopathic inflammatory myopathies and other genetic muscle disorders including the muscular dystrophies. Careful enquiry about the nature and timing of muscle pain, as well as identification of other clinical ‘red-flags’, can highlight the possibility of a metabolic myopathy. The possibility of metabolic myopathy or muscular dystrophy mimicking myositis should be considered early in ‘treatment-resistant myositis’ or ‘seronegative myositis’. The diagnosis of metabolic myopathies depends on a multidisciplinary team, an awareness of the increasing availability of enzyme activity testing and the utility of expanding genetic technologies. In some cases, dietary manipulation and enzyme replacement therapies are useful treatments.

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24

Molecular genetics of muscle disease: Duchenne and other dystrophies. Edinburgh: Churchill Livingstone for the British Council, 1989.

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25

Kennett, Robin P., and Sidra Aurangzeb. Primary muscle diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0024.

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This chapter on primary muscle diseases explains how analysis of compound muscle action potential (CMAP) amplitude, abnormal spontaneous activity on needle electromyography (EMG), and motor unit action potentials (MUAP) characteristics may be used to give an indication of pathophysiological processes, and goes on to describe the combination and distribution of abnormalities that may be expected in the more commonly encountered myopathies. The conditions considered in detail are inflammatory myopathy (including myositis), critical illness myopathy, disorders with myotonia, inherited myopathy (including muscular dystrophy), and endocrine, metabolic and toxic disorders. Each of these has a characteristic combination of CMAP, spontaneous EMG, and MUAP findings, but the systematic approach to clinical neurophysiology as a way of understanding muscle pathophysiology can be used to investigate the myriad of rare myopathies that may be encountered in clinical practice.

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26

Christensen, Dolores. Myostatin: Structure, Role in Muscle Development and Health Implications. Nova Science Publishers, Incorporated, 2016.

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27

(Editor), Robert C. Griggs, and George Karpati (Editor), eds. Myoblast Transfer Therapy (Advances in Experimental Medicine and Biology). Springer, 1990.

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28

Mendell, Jerry R., and Dongsheng Duan. Muscle Gene Therapy. Springer, 2019.

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29

1932-, Kakulas Byron A., Howell J. McC, and Roses Allen D, eds. Duchenne muscular dystrophy: Animal models and genetic manipulation. New York: Raven Press, 1992.

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30

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. Peripheral Nerve and Muscle Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.001.0001.

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Peripheral Nerve and Muscle Disease uses a case-based approach to cover common and important topics in the diagnosis and treatment of neuromuscular disorders. Neuromuscular cases are always challenging. This is because even with nerve conduction studies and electromyography diagnostic certainty can still be difficult. Even with recent advances in serologic and genetic testing diagnostic certainty may be elusive. Each chapter provides an overview of the approach to the problem in question followed by a discussion of the diagnosis, key points to remember, and selected references for further reading. For this edition, new cases include Lambert-Eaton syndrome, botulism, facioscapulohumeral muscular dystrophy, and several types of neuropathy. Peripheral Nerve and Muscle Disease is an engaging collection of thought-provoking cases that clinicians can use when they encounter difficult patients on the ward or in the clinic. The volume is also a self-assessment tool that tests the reader’s ability to answer the question “What do I do now?”

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31

Stevens, Daniel James. The role of alternative splicing in non-muscle aspects of Duchenne muscular dystrophy. 2006.

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32

Mammen, Andrew L., and Jessica R. Nance. Evaluation of hyperCKaemia. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0007.

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Serum creatine kinase (CK) levels may be elevated in patients with muscle weakness or pain. In asymptomatic patients with CK elevations, the focus should be on identifying reversible causes, followed by investigation for inherited muscle diseases. In asymptomatic patients with an incidental finding of elevated CK, clinicians should look for reversible causes, then re-test the CK after 10 days of rest in the absence of potential triggers. If the CK remains markedly elevated and/or electromyography proves myopathic, a muscle biopsy should be considered. Women of childbearing age with elevation of serum CK should be evaluated for dystrophin mutation. Genetic causes of hyperCKaemia can be pursued with targeted gene sequencing, or whole exome or next generation sequencing. Patients with inherited skeletal muscle diseases may also have associated cardiac disease, so a cardiology evaluation should be considered in all patients with unexplained CK elevations.

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33

Abstract of a clinical lecture on a case of the "juvenile form" of progressive muscular atrophy (Erb's "dystrophia muscularis progressiva"). Toronto: Dudley & Burns, 1985.

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34

Shaibani, Aziz. Scapular Winging. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0011.

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Scapulae play a central role in arm abduction, and their failure causes poor abduction despite preserved arm abductors (deltoids and supraspinati). A good knowledge about the anatomy of the scapulae and their muscles and nerves is necessary. Unilateral winging is usually due to nerve pathology, but frank asymmetry is typical for facioscapulohumeral muscular dystrophy (FSHD). Progressive bilateral scapular winging is seen in many myopathies, including muscular dystrophy (MD) and scapuloperoneal syndrome (SPS). Weakness of different scapular muscles leads to different scapular positions during arm movement. When the underlying disease is not treatable, surgical fixation of the scapulae on the chest wall improves arm abduction.

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35

Heene, Rainer, and Adriann M. de Graaf. Experimental Myopathies and Muscular Dystrophy: Studies in the Formal Pathogenesis of the Myopathy of 2,4-Dichlorophenoxyacetate. Springer, 2011.

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36

Patterson, Marc C. Congenital Disorders of Glycosylation. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0066.

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Congenital disorders of glycosylation (CDG) comprise a family of multisystem diseases in which N- and O-linked glycosylation and glypiation of a variety of proteins and lipids is deficient. The hypoglycosylation of multiple glycoconjugates impairs normal development of the brain (and other organs), and is associated with both episodic and chronic organ dysfunction. Developmental disorders; seizures; strokelike episodes (and stroke); hearing and visual loss; peripheral neuropathy; coagulopathy; and immune, liver, endocrine, cardiac, and cutaneous manifestations may occur in varying combinations. Specific therapy is available for MPI-CDG and SLC35C2-CDG. Most forms of O-linked CDG affect muscle; these include congenital muscular dystrophies and limb girdle dystrophies.

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37

M, Kelly Alan, and Blau Helen M, eds. Neuromuscular development and disease. New York: Raven Press, 1992.

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38

Adams, Amy. The Muscular System. Greenwood Press, 2004.

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39

Manlapaz, Mariel, and Perin Kothari. Neuromuscular Disorders and Anesthesia. Edited by David E. Traul and Irene P. Osborn. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190850036.003.0029.

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The various neuromuscular diseases present with different airway, cardiovascular, pulmonary, and anesthetic considerations. It is useful to categorize these different diseases into nerve, neuromuscular junction, and primary muscle diseases. Understanding their pathophysiology is paramount in choosing the right anesthetic drugs (for example, depolarizing versus nondepolarizing and regional versus general anesthesia). Knowing their manifestations such as autonomic dysfunction, skeletal/cardiac/smooth/bulbar muscle involvement, or tendency for tonic contraction, allows for expectant perioperative management. Finally appreciating their association with certain disease states such as malignant hyperthermia or endocrine dysfunction can prevent complications. A brief review of myotonic dystrophy is presented here, followed by a brief summary of anesthetic considerations for various neuromuscular diseases.

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40

Molecular biology of muscle development: Proceedings of a Roche-UCLA Symposium, held in Park City, Utah, March 15-22, 1985 (UCLA symposia on molecular and cellular biology). A.R. Liss, 1986.

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41

Michel, Vanasse, and Hôpital Sainte-Justine, eds. Les maladies neuromusculaires chez l'enfant et l'adolescent. Montréal: Éditions de l'Hôpital Sainte-Justine, 2004.

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42

Shaibani, Aziz. Scapular Winging. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0011.

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Scapulae play a central role in arms abduction, and their failure causes poor abduction despite preserved arm abductors (deltoids and supraspinati). A good knowledge of the anatomy of the scapulae and their muscles and nerves is necessary. Unilateral winging is usually due to nerve pathology, but frank asymmetry is also typical for FSHD. Progressive bilateral scapular winging is seen in many myopathies, including muscular dystrophies and scapuloperoneal syndromes. Weakness of different scapular muscles leads to different scapular positions during arm movement. When the underlying disease is not treatable, surgical fixation of the scapulae on the chest wall will improve arm abduction.

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43

Shaibani, Aziz. Dyspnea. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0009.

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The most common causes of dyspnea are not neuromuscular but rather are cardiac and pulmonary. However, dyspnea is an important and serious manifestation of many neuromuscular disorders, and it may compound an underlying pulmonary or cardiac problem. The diaphragm is a skeletal muscle under the control ofperipheral nerves(phrenic nerves) and may be targeted by inflammatory neuropathies such as Guillain-Barrésyndrome(GBS), chronic inflammatory demyelinating polyneuropathy(CIDP), and brachial plexitis, myopathies such as acid maltase deficiency and muscular dystrophies, and neuromuscular disorders such as myasthenia gravis. Periodic measurement of pulmonary function isrecommended in neuromuscular clinics.

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44

Murray, E. Lee, and Veda V. Vedanarayanan. Neuromuscular Disorders. Edited by Karl E. Misulis and E. Lee Murray. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190259419.003.0021.

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The hospital neurologist may encounter neuromuscular disorders as known chronic conditions that are exacerbated by a hospital stay, be the principal reason for admission, or develop during a prolonged hospitalization. This chapter details the presentation, diagnosis, and management of conditions affecting the peripheral nerves and neuromuscular junction, such as myasthenia gravis, Lambert-Eaton (myasthenic) syndrome, botulism, and tick paralysis; as well as muscular weakness from various causes such as rhabdomyolysis, critical illness neuromyopathy, inflammatory myopathies, muscular dystrophies, periodic paralysis, and metabolic and endocrine myopathies. Also discussed are motoneuron degeneration, including amyotrophic lateral sclerosis and progressive muscle atrophy, and neuromuscular respiratory failure.

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45

Shaibani, Aziz. Dyspnea. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0009.

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The most common causes of dyspnea are not neuromuscular, but rather cardiac and pulmonary. However, dyspnea is an important and serious manifestation of many neuromuscular disorders, and it may compound an underlying pulmonary or cardiac problem. The diaphragm is a skeletal muscle under the control of a peripheral nerve and may be targeted by inflammatory neuropathies such as Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), and brachial plexitis or myopathies such as acid maltase deficiency, muscular dystrophy (MD), and neuromuscular disorders such as myasthenia gravis (MG). Periodic measurement of pulmonary function is a recommended measure in neuromuscular clinics.

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46

Cellular and molecular biology of muscle development: Proceedings of a Muscular Dystrophy Association-UCLA Symposium, held at Steamboat Springs, Colorado, ... symposia on molecular and cellular biology). Liss, 1989.

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47

Cellular and molecular biology of muscle development: Proceedings of a Muscular Dystrophy Association-UCLA Symposium, held at Steamboat Springs, Colorado, ... symposia on molecular and cellular biology). Liss, 1989.

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48

Wilson-MacDonald, James, and Andrew James. Complications of fractures. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199550647.003.012002.

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♦ Fat embolism syndrome is defined as the presence of globules of fat in the lungs and in other tissues and occurs occasionally in long bone fractures♦ Reflex sympathetic dystrophy is characterized by intense prolonged pain, vasomotor disturbance, delayed functional recovery, and trophic changes♦ Avascular necrosis typically affects intra-articular bone after fracture and can occur in up to 70% of displaced talar neck fractures♦ Immobility associated with recovery from fracture is associated with deep vein thrombosis, which carries a risk of pulmonary embolism, and should be treated with anti-coagulants♦ Gas gangrene is a rapidly-spreading infection of devitalized tissue, removal of the affected area and treatment with penicillin is required♦ Compartment syndrome within a closed compartment can result in tissue ischaemia and necrosis followed by fibrosis and muscle contracture

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49

van der Ploeg, Ans T., and Pascal Laforêt. Pompe Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0055.

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Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use of enzyme replacement therapy using recombinant acid α‎-glucosidase (alglucosidase alfa), which has been widely available since 2006. Improvements in survival and major motor achievements can be observed in patients with infantile forms, and recent studies demonstrate improvement of walking distance and stabilization of pulmonary function in late-onset forms. A longer-term study of the safety and efficacy of ERT, based on data gathering across the complete spectrum of Pompe disease via national or international patient registries, is needed in order to formulate more precise guidelines for treatment.

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50

Bass, Cristina, Barbara Bauce, and Gaetano Thiene. Arrhythmogenic right ventricular cardiomyopathy: diagnosis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0360.

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Arrhythmogenic cardiomyopathy is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibrofatty replacement. The clinical manifestations of arrhythmogenic cardiomyopathy vary according to the ‘phenotypic’ stage of the underlying disease process. Since there is no ‘gold standard’ to reach the diagnosis of arrhythmogenic cardiomyopathy, multiple categories of diagnostic information have been combined. Different diagnostic categories include right ventricular morphofunctional abnormalities (by echocardiography and/or angiography and/or cardiovascular magnetic resonance imaging), histopathological features on endomyocardial biopsy, electrocardiogram, arrhythmias, and family history, including genetics. The diagnostic criteria were revised in 2010 to improve diagnostic sensitivity, but with the important prerequisite of maintaining diagnostic specificity. Quantitative parameters have been put forward and abnormalities are defined based on the comparison with normal subject data. A definite diagnosis of arrhythmogenic cardiomyopathy is achieved when two major, or one major and two minor, or four minor criteria from different categories are met. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, sarcoidosis, dilated cardiomyopathy, right ventricular infarction, congenital heart diseases with right ventricular overload, and athlete’s heart. Among diagnostic tools, contrast-enhanced cardiovascular magnetic resonance is playing a major role in detecting subepicardial-midmural left ventricular free wall involvement, even preceding morphofunctional abnormalities. Moreover, electroanatomical mapping is an invasive tool able to detect early right ventricular free wall involvement in terms of low-voltage areas. Both techniques are increasingly used in the diagnostic work-up although are not yet part of diagnostic criteria.

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