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Libros sobre el tema "Myotonia"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 25 de julio de 2025

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1

Ueda, Hideho. Myotonic dystrophy and myotonic dystrophy protein kinase. Urban & Fischer, 2000.

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2

Harper, Peter S. Myotonic dystrophy. 2nd ed. Oxford University Press, 2009.

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3

Harper, Peter S. Myotonic dystrophy: A lecture given by Professor Harper to the Mytotonic Dystrophy Support Group on 21.4.89. Myotonic Dystrophy Support Group, 1989.

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4

S, Harper Peter, ed. Myotonic dystrophy: Present management, future therapy. Oxford University Press, 2004.

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5

Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. University College Dublin, 1995.

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6

Parker, James N., and Philip M. Parker. Myotonic dystrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. ICON Health Publications, 2007.

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7

Takahashi, Masanori P., and Tsuyoshi Matsumura, eds. Myotonic Dystrophy. Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5.

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8

Shinichi, Ohno, and Kobayashi T. (Takayoshi), eds. Myotonic dystrophy and myotonic dystrophy protein kinase. Urban & Fischer, 2000.

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9

Engvall, Monica. On oral health in children and adults with myotonic dystrophy. Department of Pedodontics, Institute of Odontology at the Sahlgrenska Academy, University of Gothenburg, 2010.

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10

Myrianthopoulos, Ntinos C. (Ntinos Cleovoulou), Vayenas Constantina, and Dixon Joanne, eds. Dystrophia myotonica and related disorders. 2nd ed. Dr. J.E. Caughey, 1991.

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11

Pinheiro, Philip Mark. A study of RNA trinucleotide repeats involved in myotonic dystrophy. University of Portsmouth, School of Biological Sciences, 1999.

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12

Chinner, Susan. Teacher intervention with a child with Phonological Dyspraxia and Myotonic Dystrophy. University of Birmingham, 1998.

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13

Platz, Guido. Genetische Beratung erblicher Muskelkrankheiten: Progressive Muskeldystrophien, Myotonien, spinale und neurale Muskelatrophien in 83 Familien. [s.n.], 1987.

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14

Timchenko, Lubov T. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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15

US GOVERNMENT. An Act to Amend the Public Health Service Act to Provide for Research with Respect to Various Forms of Muscular Dystrophy, Including Duchenne, Becker, Limb Girdle, Congenital, Facioscapulohumeral, Myotonic, Oculopharyngeal, Distal, and Emery-Dreifuss Muscular Dystrophies. U.S. G.P.O., 2001.

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16

Shaibani, Aziz. Myotonia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0021.

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Myotonia is a slow relaxation phase of a muscle after normal contraction. Patients report myotonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Checking for percussion and action myotonia should be part of neuromuscular examination. Electrically silent myotonia is a sign of Brody’s syndrome. Myotonia may be incidentally discovered during EMG. The most important task is to differentiate between myotonia and paramyotonia clinically and electromyographically. Most myotonic disorders are caused by mutations of sodium, and chlor
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17

Shaibani, Aziz. Myotonia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0021.

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Myotonia is a slow relaxation phase after normal contraction. Patients report dystonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents. Examination for percussion myotonia should be part of neuromuscular examination. Percussion of the thenar muscles with the reflex hammer is the most productive method. Electrically silent myotonia is a sign of Brody myopathy. Myotonia may be incidentally discovered during electromyography (EMG). The most important task is to differentiate between myotonia from paramyotonia clinically and electr
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18

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 Lambe
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19

Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 52-Year-Old Female with Weakness and Droopy Eyelids. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0024.

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Myotonic dystrophy type 1 affects multiple organ systems and is associated with cardiac, endocrine, and ophthalmological disorders. Executive dysfunction can lead to missed appointments and an apathetic attitude, causing patients to underestimate symptoms. The findings of both clinical and electrical myotonia should suggest myotonia congenita, DM1, or DM2. Myotonic dystrophy demonstrates anticipation, where the disease has an earlier onset and more severe course with subsequent generations due to increasing trinucleotide repeats. Therefore, the diagnosis can be heralded in an adult by his/her
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20

Pitt, Matthew. Investigation of channelopathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0008.

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The chapter begins with a general description of the clinical findings in conditions where hyperexcitability occurs. These are divided into the dystrophic conditions, such as myotonia dystrophy, and the non-dystrophic conditions, which include myotonia congenita, paramyotonia congenita, and potassium-aggravated myotonia. Conditions where hypoexcitability occurs such as periodic paralysis are next discussed. The associated disorders of sodium, calcium, chloride, and potassium channels are described. Next, the protocols for the neurophysiological tests that are used in myotonia, and the short ex
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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 consideratio
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22

Publications, ICON Health. The Official Patient's Sourcebook on Myotonia Congenita: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

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23

Schoser, B. Myotone Dystrophien, Myotonien und Periodische Lähmungen: J12 Therapie und Verlauf Neurologischer Erkrankungen. Kohlhammer Verlag, 2013.

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24

Schoser, B. Myotone Dystrophien, Myotonien und Periodische Lähmungen: J12 Therapie und Verlauf Neurologischer Erkrankungen. Kohlhammer Verlag, 2013.

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25

Myotonic Dystrophy. 3rd ed. Bailliere Tindall, 2001.

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26

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, neurological including neuromuscular, and non-neurological including musculoskeletal. Neuromuscular clinics receive referrals about patients who may have non-neuromuscular disorders such as Parkinsondisease, focal foot dystonia, and multiple sclerosis. It is important for a neuromuscular specialist to be aware of other gait disorders. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neuron disease. Functi
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27

Shaibani, Aziz. Gait Disorders. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0001.

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Gait is a complicated process that is initiated and maintained by different mechanisms, both neurological (including neuromuscular) and nonneurological (including musculoskeletal). Neuromuscular clinics receive referrals about patients who may have nonneuromuscular disorders such as Parkinson disease, focal foot dystonia, and multiple sclerosis (MS). It is important for neuromuscular specialists to be aware of other gait disorders as well. Important neuromuscular disorders of gait include neuropathies (foot drop, sensory ataxia), myopathies, muscle stiffness and spasms, myotonia, and motor neu
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28

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 (i
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29

Turney, Ben, and John Reynard. Kidney stones. Edited by John Reynard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0013.

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The composition of kidney stones is variable and the predisposing factors multifactorial. Consequently, a detailed evaluation of the patient’s lifestyle, diet, fluid intake, medical history, drug history, urinary tract anatomy, blood, and urine biochemistry and stone composition is required determine predisposing factors for stone formation in an individual patient. Combinatorial subtle variants in biochemistry may act synergistically to increase risk of stone formation/recurrence. Many medications may alter blood and/or urine biochemistry and predispose to stone formation. Corticosteroids inc
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30

Aminoff, Michael J. Clinical Observations on the Nervous System. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190614966.003.0009.

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With his remarkable knowledge of anatomy and his analytical mind, Bell developed into an outstanding clinical neurologist even before the specialty had been invented. Thus it was that in his later years, when finally he returned to the University of Edinburgh as professor of surgery, referrals and requests for consultation were often for him to provide a neurological opinion rather than to perform surgical operations. His clinical observations regarding motor or sensory disturbances involving the face are of particular interest given his interests in the facial expression of emotions and the i
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31

(Editor), Peter S. Harper, Baziel G. M. van Engelen (Editor), Bruno Eymard (Editor), and Douglas E. Wilcox (Editor), eds. Myotonic Dystrophy: Present Management, Future Therapy. Oxford University Press, USA, 2004.

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32

Schoser, Benedikt, and Giovanni Meola, eds. Beyond Borders: Myotonic Dystrophies – A European Perception. Frontiers Media SA, 2019. http://dx.doi.org/10.3389/978-2-88945-709-0.

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33

Myotonic Dystrophy: The Facts (Oxford Medical Publications). 3rd ed. Oxford University Press, USA, 2002.

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34

Münster, Universität, ed. Muskeldystrophia Myotonica Curschmann-Steinert eine Elektronenmikroskopische Bilddokumentation. 1990.

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35

Jenkins, Sandra. Myotonic Dystrophies: Epidemiology, Diagnosis and Therapeutic Challenges. Nova Science Publishers, Incorporated, 2015.

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36

Myotonic Dystrophy (Major Problems in Neurology, Vol 21). W.B. Saunders Company, 1989.

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37

Winblad, Stefan. Myotonic Dystrophy Type 1: Cognition, Personality and Emotion. Dept. of Psychology, Goteborg University, 2006.

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38

Cascio, Stefania. Coloring Book - You Will Get Better - Myotonic Dystrophy. Independently Published, 2021.

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39

Takahashi, Masanori P., and Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2018.

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40

Takahashi, Masanori P., and Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2018.

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41

Takahashi, Masanori P., and Tsuyoshi Matsumura. Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development. Springer, 2019.

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42

Glücker, Eckard. Mitralklappenprolaps und hirnorganische Veränderungen bei myotoner Dystrophie. 1996.

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43

Lorrick, Ludwig. Fainting Goats As Pets. Fainting Goat or Myotonic Goats Owners Manual. IMB Publishing, 2014.

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44

Shaibani, Aziz. EMG Findings. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0028.

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While this chapter and even this book are not intended to be a textbook in electrodiagnosis, we have chosen video samples of typical abnormal discharges that neuromuscular specialists often face, such as myopathic units, myotonic discharges, myokymia, fibrillations, and neurogenic firing. Other EMG clips are embedded in other chapters. It is not unusual for referred neuromuscular patients to carry an erroneous clinical diagnosis based on incidental EMG discharges such as myotonic discharges. On the other hand, voluntary activity may be reported as abnormal discharges and a diagnosis of denerva
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45

Publications, ICON Health. Myotonic Dystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. ICON Health Publications, 2004.

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46

Stanly, Louis. Fainting Goats: The Absolute Care Guide on Fainting Goat or Myotonic Goats Owner's Manual. Independently Published, 2021.

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47

Berlin, Freie Universität, ed. Ergebnisse der Myotomie, Myektomie nach LYNN bei Kindern mit Morbus Hirschsprung. 1994.

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48

History of Medicine Collections (Duke and William 1666-1709 Cowper. Myotomia Reformata, or, a New Administration of All the Muscles of Humane Bodies: ; C. 1. Creative Media Partners, LLC, 2021.

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49

Schu⁺rmann, Cord Michael. Membranfluidita⁺t bei myotoner Muskeldystrophie Curschmann-Steinert: Eine fluoreszenzanalytische Untersuchung an Thrombozyten. 1997.

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50

Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Genetics. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0010.

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Chapter 10 covers the basic science and clinical topics relating to genetics which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers karyotype, mitosis, and meiosis, mechanisms of inheritance/disease transmission, mitochondrial disease, trinucleotide repeats and imprinting, investigative techniques in genetic medicine, Down syndrome, Klinefelter syndrome, Turner syndrome, neurofibromatosis, tuberous sclerosis, myotonic dystrophy, Friedreich ataxia, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Ehlers-Danlos syndrome.
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