關於 myotonia ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Pathological findings in a patient with non-dystrophic ...

Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that ...

#12. Sodium Channel Myotonia Due to Novel Mutations in Domain ...

Myotonia is an impaired muscle relaxation after a voluntary muscle contraction and is the main feature of a group of heterogeneous skeletal ...

#13. Myotonia Congenita (Thomsen Disease and Becker Type)

Myotonia congenita is an inherited myopathy, a disease that causes problems with the tone and contraction of skeletal muscles. It doesn't cause muscle atrophy ( ...

#14. Effect of Mexiletine on Muscle Stiffness in Patients With ...

Nondystrophic myotonia (NDM) is a rare chronic disease caused by mutations in the skeletal muscle sodium ion (SCN4A) or chloride ion (CLCN1) ...

#15. Acetazolamide responsive myotonia - Orphanet

Muscle stiffness is generally painful. Additional clinical signs include generalized muscle hypertrophy, percussion myotonia of proximal upper extremity muscles ...

#16. Congenital and Acquired Myotonia | PM&R KnowledgeNow

Myotonia is essentially failure of muscle relaxation following contraction, leading to clinical spasm and specific patterns of prolonged ...

#17. Drug treatment for myotonia (delayed muscle relaxation after ...

Myotonia is an abnormal delay in the relaxation of muscles after contraction. It is a key symptom in a number of muscle diseases called ...

#18. Muscle hypertrophy in myotonia congenita - Journal of ...

Myotonia, defined as delayed relaxation of muscle after contraction, is seen in a group of genetic disorders that includes autosomal dominant myotonia congenita ...

#19. Myotonia congenita - UF Health

Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.

#20. Myotonia Definition & Meaning - Merriam-Webster

The meaning of MYOTONIA is tonic spasm of one or more muscles; also : a condition characterized by such spasms.

#21. Non-dystrophic myotonia: prospective study of objective and ...

Abstract. Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with ...

#22. Reversal of RNA missplicing and myotonia after muscleblind ...

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Rahul N. Kanadia, Jihae Shin, ...

#23. Myotonia Congenita: Symptoms, Outlook, and More - Healthline

Myotonia congenita is a rare disease that causes muscle stiffness and sometimes weakness. Stiff muscles can make it hard to walk, eat, and talk.

#24. Study of Ranolazine in Myotonia Congenita, Paramyotonia

Diagnosis of myotonia congenital, paramyotonia congenital or Myotonic Dystrophy Type 1 established by genetic testing in the subject or in a first-degree ...

#25. Myotonia and the muscle chloride channel | Neurology

The delayed relaxation or sustained contraction of skeletal muscle-myotonia--is frequently seen in myotonic dystrophy and sodium ...

#26. A case report of recessive myotonia congenita and early onse...

Rationale: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Tho.

#27. Electrodiagnosis of Myotonic Disorders - University of ...

Myotonia is due to increased excitability of the muscle membrane often ... Myotonia Myotonic dystrophy Periodic paralysis Nondystrophic myotonia.

#28. Myotonia congenita - Socialstyrelsen

Myotonia congenita är en medfödd, ärftlig muskelsjukdom. Myotonia står för muskelstelhet och congenita står för medfödd. Sjukdomen innebär att musklerna ...

#29. The mechanism underlying transient weakness in myotonia ...

Transient weakness in myotonia congenita is caused by depolarization secondary to activation of persistent Na+ current in skeletal muscle.

#30. What Is Myotonia Congenita? - WebMD

Myotonia congenita is a genetic disorder that affects skeletal muscle movement. Learn about its causes, symptoms, and treatment.

#31. Myotonia of the Tongue | NEJM

Physical examination revealed weakness of the muscles of the face, neck, shoulder girdle, and hands. Myotonia was elicited with percussion of ...

#32. Myotonia in Dogs | Affected Breeds, Symptoms and Treatment

This rare disease, more aptly termed "myotonia congenita," affects the muscles by allowing the continuous contraction of muscle fibers.

#33. The Non-dystrophic Myotonias - Medscape

Myotonia congenita is the most common inherited skeletal muscle channelopathy. The autosomal dominant form was first described in the 19th century by the ...

#34. 255700 - MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

Autosomal dominant myotonia congenita, or Thomsen disease (160800), is caused by heterozygous mutation in the CLCN1 gene. ▽ Description. Autosomal recessive ...

#35. An Overview of Myotonia Congenita - Verywell Health

Myotonia congenita is a genetic condition. A mutation, which is an abnormal gene code, has been identified in the CLCN1 gene, which is found on ...

#36. Myotonia disease: Malacards - Research Articles, Drugs ...

They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited ...

#37. Understanding the Impact of Non-Dystrophic Myotonia on ...

Non-dystrophic myotonias (NDM) manifest as delayed muscle relaxation (myotonia) leading to muscle stiffness that may diminish or worsen with ...

#38. Myotonia Congenita

Myotonia congenita is caused by a mutation in a gene (CLCN1) that encodes a skeletal muscle chloride channel, which leads to delayed relaxation of skeletal ...

#39. A large intragenic deletion in the CLCN1 gene causes ...

Myotonia is a medical term describing a delayed relaxation of the skeletal muscle after voluntary contraction, electrical or mechanical ...

#40. Myotonic syndromes - Knowledge @ AMBOSS

myotonia. that is not identified during clinical examination; however, genetic tests usually confirm the diagnosis.

#41. Myotonic dystrophy: Treatment and prognosis - UpToDate

... characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, iridescent cataracts, and other abnormalities.

#42. Myotonia Congenita - Conditions - Neurological - What We Treat

Symptoms include muscle stiffness, enlargement, pain, and cramping. The effects of myotonia gravis commonly occur in the leg muscles as well as the eyelids and ...

#43. Myotonia - Neuromuscular Home Page

MYOTONIA · Typical. Myotonic dystrophies: 1; 2; Myotonia congenita; Paramyotonia · Other disorders. Acid maltase deficiency; Immune myopathies; Myotubular ...

#44. myotonia - Wiktionary

myotonia (countable and uncountable, plural myotonias). A symptom of several muscular disorders characterized by the slow relaxation of the muscles after ...

#45. List of 3 Myotonia Congenita Medications Compared - Drugs ...

Medications for Myotonia Congenita. Other names: Congenital myotonia. Myotonia congenita is an inherited disorder that affects skeletal muscles. Beginning in ...

#46. Myotonia Panel | Test catalog for genetic & genomic testing

Periodic paralysis; Brody Disease; Hyperekplexia; Lipodystrophy; Neuromyotonia; Paramyotonia Congenita; Potassium-aggrevated myotonia; Rippling muscle ...

#47. Grip and Percussion Myotonia in Myotonic Dystrophy Type 1

The exam finding of myotonia represents the delayed relaxation of skeletal muscle fibers after voluntary muscle contraction. Our patient ...

#48. Sodium channel myotonia (paramyotonia congenita) - Great ...

Myotonia is muscle stiffness that develops when the muscles do not relax after being squeezed. In myotonia, this stiffness may wear off after the muscles ...

#49. About Myotonic Dystrophy - National Human Genome ...

What is myotonic dystrophy? Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.

#50. Early Onset Myotonia Evaluation - Athena Diagnostics

Test Details ; Type of disorder: Neuromuscular Disorders ; Disease(s) tested for: Myotonic Dystrophy, Type 1, Myotonia Congenita, Sodium Channel Myotonia ; Genes ...

#51. Myotonia Definition & Meaning | Dictionary.com

Myotonia definition, tonic muscle spasm or muscular rigidity. See more.

#52. Cineradiographic Demonstration of Pharyngeal Area ...

The hereditary syndrome of myotonia and dystrophy of skeletal muscle, autonomic vascular and alimentary disorders, testicular atrophy and frontal baldness ...

#53. Mexiletine for treating the symptoms of myotonia in non ... - NICE

Evidence-based recommendations on mexiletine (Namuscla) for treating the symptoms of myotonia in adults with non-dystrophic myotonic disorders.

#54. Myotonic Muscular Dystrophy - Johns Hopkins Medicine

Symptoms of myotonic dystrophy might include difficulty releasing one's grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing ...

#55. Ocular Manifestations of Myotonic Dystrophy - EyeWiki

Myotonic Dystrophy is a multi-system disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, ...

#56. myotonia | Search results page 1 | Evidence search | NICE

CLINICAL CHARACTERISTICS: Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups... Type: ...

#57. Thomsen's type myotonia congenita with short-term disability ...

Myotonia congenita is a muscle ion channel disorder of non-progressive type, characterized by myotonia and muscle hypertrophy. It has autosomal dominant ...

#58. Mechanisms of a Human Skeletal Myotonia Produced ... - PLOS

Mechanisms of a Human Skeletal Myotonia Produced by Mutation in the C-Terminus of NaV1.4: Is Ca 2+ Regulation Defective? Subrata Biswas,.

#59. Myotonia congenita - helsenorge.no

Myotonia congenita (medfødt muskelstivhet) er en arvelig, sjelden muskelsykdom. Sykdommen arter seg ved at musklene har vansker med å slappe ...

#60. Drug treatment for myotonia - Trip, J - 2004 | Cochrane Library

Baumann P, Myllyla R, Leisti J. Myotonia congenita in northern Finland: an epidemiological and genetic study. Journal of Medical Genetics 1998;35(4):293‐6.

#61. Myotonia congenita and myoadenylate deaminase deficiency

We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy.

#62. Myotonia Overview - Expertscape.com

This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC ...

#63. Myotonia congenita - Internetmedicin

Myotonia congenita är en ärftlig sjukdom som anses orsakas av minskad Cl-jonkonduktans i muskelfibermembranen. Sedan 1992 har över 50 sjukdomsframkallande ...

#64. Myotoniat | Lihastautiliitto

Myotonia tarkoittaa lisääntynyttä lihasjänteyttä, johon ei tavallisesti liity kipuja. Myotoniat ovat yleensä aikuisten sairauksia. Myotonia congenita (MC) ...

#65. myotonia - 詞典釋義與在線翻譯 - 海词词典

abnormally long muscular contractions; slow relaxation of a muscle after a contraction. myotonia的用法和樣例：. 辭彙搭配.

#66. Myotonia Congenita - Overview - Brain and Life Magazine

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.

#67. Myotonia-related mutations in the distal C-terminus of ClC-1 ...

We found that the myotonia-causing mutation A885P disturbs this structure by extending the poly-proline helix. We hypothesize that this structural modification ...

#68. myotonia congenita - Translation into French - examples English

Translations in context of "myotonia congenita" in English-French from Reverso Context: This behaviour is caused by a hereditary genetic disorder called ...

#69. Disease - Myotonia congenita, autosomal dominant - UniProt

A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).

#70. CONGENITAL MYOTONIA IN GOATS - The Lancet

CONGENITAL MYOTONIA IN GOATS. Published:November 12, 1938DOI:https://doi.org/10.1016/S0140-6736(00)83024-X · CONGENITAL MYOTONIA IN GOATS.

#71. Myotonia Congenita - Kaiser Permanente

Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually ...

#72. Electrical Myotonia in Myotonic Dystrophy Type 1 vs. Type 2

Differences between the two diseases in electrical myotonia have been ... Muscle strength and myotonia correlated negatively in DM1 but did ...

#73. About: Potassium-aggravated myotonia - Rare Disease InfoHub

Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs ...

#74. A de novo Mutation in the SCN4A Gene Causing Sodium ...

We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy, stiffness when commencing movements and ...

#75. An Unusual Mutation in Myotonia Congenita - The American ...

Percussion myotonia of the thenar eminence and extensive muscle hypertrophy were also noted (Figure 1). Laboratory tests demonstrated elevated ...

#76. Myotonia chondrodystrophia first case of Loghman Hakim ...

Myotonia chondrodystrophia, which is easier to diagnose than describe, is a rare congenital disorder inherited as an autosomal recessive.

#77. Myotonia Congenita - SAGE Journals

Myotonia Congenita. By REDVERS N. IRONSIDE, M.B. (for F. M. R. WALSHE,. O.B.E., M.D.). J. G., AGED 22. No family history of nervous disease or disease ...

#78. Myotonic Dystrophy Foundation

Helping families living with myotonic dystrophy by delivering comprehensive support resources, and driving research to accelerate the discovery of DM ...

#79. myotonia dystrophica: report of six cases in one family, with an ...

Excerpt INTRODUCTION Myotonia dystrophica is a familial disorder with multisystem involvement characterized by myotonia, atrophy of distal muscle components ...

#80. Novel mutations in human and mouse SCN4A implicate ...

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Silvia Corrochano, Roope Männikkö, Peter I Joyce, ...

#81. The anti-convulsants lacosamide, lamotrigine and rufinamide ...

abstract = "INTRODUCTION: In myotonia congenita, loss of ClC-1 Cl(-) -channel function results in skeletal muscle hyperexcitability and myotonia.

#82. myotonia congenita - Primary Care Notebook

Muscular development is good and hypertrophy may occur giving the child a Herculean look. Atrophy may not occur until late in the disease. Myotonia may be ...

#83. A Family with Autosomal Recessive Generalised Myotonia ...

Myotonia congenita is an uncommon hereditary disease of skeletal muscles that begins in early life, and is characterized by myotonia and muscular ...

#84. Canine Myotonia Congenita (MC) - AnimaLabs©

Myotonia congenita is an inherited condition, that affects skeletal muscles. Canine myotonia congenita genetic testing for Miniature Schnauzer.

#85. myotonia - Portuguese translation – Linguee

Many translated example sentences containing "myotonia" – Portuguese-English dictionary and search engine for Portuguese translations.

#86. česká verze Myotonia Behaviour Scale | Masaryk University

Title in English, Validation of question naire for patients with myotonia - Czech version of Myotonia Behaviour Scale. Authors.

#87. Health & Environmental Research Online (HERO) | US EPA

Effect of temperature reduction on myotonia in rat skeletal muscles in vitro. Author(s). Fanning, L; Macdermott, M; ,.

#88. A Case of Myotonia Congenita and Schizophrenia: Difficulties ...

Myotonia congenita is a rare non-dystrophic skeletal muscle disease characterized by an inability to relax skeletal muscles after abrupt voluntary movements ...

#89. Myotonia congenita - RCFM - RehabiliteringsCenter for ...

Her kan du læse om muskelsvindsygdommen myotonia congenita. Du kan få viden om, hvilke mekanismer der forårsager diagnosen, og hvordan den påvirker din krop ...

#90. Clinical and molecular characteristics of myotonia congenita ...

Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the ...

#91. Myotonia- An approach to diagnosis - SlideShare

2. Myotonia is defined clinically as a difficulty in relaxation of a muscle after maximum voluntary contraction. It may affect different ...

#92. myotonia congenita - Store medisinske leksikon

Thomsens sykdom, er en sjelden, arvelig muskelsykdom som særlig preges av myotoni. Den manglende evnen til å slappe av muskulaturen gjør at pasientene ofte ...

#93. Cable parameters, sodium, potassium, chloride, and water ...

In isolated fiber bundles of external intercostal muscle from each of 13 normal volunteers and each of 6 patients with myotonia congenita, some or all of ...

#94. Myotonic dystrophy type 1 | Radiology Reference Article

In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1.

#95. myotonia的意思- 英漢詞典 - 漢語網

myotonia 中文的意思、翻譯及用法：n. [外科] 肌強直。英漢詞典提供【myotonia】的詳盡中文翻譯、用法、例句等.

#96. myotonia | Richard Weston's Myotonic Dystrophy Blog

Posted in Drugs, Medical, Treatments and Cures, Uncategorized | Tagged antibiotic, cure for mytonic dystrophy, DM, drug, myotonia, reverse the DM1 disease, ...