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Friday, July 31, 2020 | History

2 edition of Myotonia found in the catalog.

Myotonia

Eivind Thomasen

Myotonia

Thomsen"s disease (myotonia congenita), paramyotonia, and dystrophia myotonica. A clinical and heredobiologic investigation. [Tr. from Danish by Finn Brink Carlsen]

by Eivind Thomasen

  • 42 Want to read
  • 29 Currently reading

Published by Universitetsforlaget in Aarhus .
Written in English

    Subjects:
  • Myotonia

  • Edition Notes

    SeriesDomus Biologiae Hereditariae Humanae Universitatis Hafniensis. [Opera, v. 17]
    Classifications
    LC ClassificationsRD688 T56
    The Physical Object
    Pagination251p.
    Number of Pages251
    ID Numbers
    Open LibraryOL18228462M

    Myotonia: Introduction. Myotonia: the slow relaxation of the muscles after voluntary contraction or electrical stimulation. See detailed information below for a list of 35 causes of Myotonia, Symptom Checker, including diseases and drug side effect causes.» Review Causes of Myotonia: Causes | Symptom Checker» Causes of Myotonia: The following medical . Myotonic syndromes are a heterogenous group of inherited disorders with similar pathological mechanisms. Myotonic dystrophies, the most prevalent myotonic syndromes, are one of the most common forms of adult-onset muscular types, myotonic dystrophy type I (Curschmann-Steinert disease) and myotonic dystrophy type II (proximal myotonic myopathy), .

    Heiman-Patterson et al. () described two sisters with myotonia congenita who, on halothane contracture testing of skeletal muscle in vitro, had findings consistent with susceptibility to malignant hyperthermia. This could be a nonspecific abnormal response to the test caused by myotonia itself. Other case reports of diffuse muscle. Print book: EnglishView all editions and formats: Rating: (not yet rated) 0 with reviews - Be the first. Subjects: Myotonia atrophica -- Genetic aspects. Myotonia congenita -- Genetic aspects. Protein kinases. View all subjects; More like this: Similar Items.

    Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising . What is myotonia congenita? 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 (shrinkage); instead, it sometimes can cause muscle enlargement and increased muscle strength. There are two types of myotonia congenita: Becker-type myotonia is the most .


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Myotonia by Eivind Thomasen Download PDF EPUB FB2

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved.

Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia.

Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.

Myotonia congenita and myotonic muscular dystrophy are usually caused by a mutation or other abnormality in a gene known as CLCN1 (chloride channel 1, skeletal muscle). That gene normally produces a protein that controls chloride channels in skeletal muscle fibre cells.

However, defects in CLCN1 disrupt ion flow, causing muscles to contract for prolonged periods of time. Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on indviduals who are diagnosed with the disease and their families.

It is present for many depths of a patient's life and has many attendant implications. Associated problems with other organs of the body, for example, which Myotonia book not. Myotonia may also be triggered by exposure to cold.

Treatment. Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function. Prognosis. Myotonia is a chronic disorder. Symptoms may improve later in life. Myotonic dystrophy is a disease that affects the muscles and other body systems.

It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness.

Myotonic dystrophy may be further classified into two types, and the two types may affect different. Myotonia congenita is a rare disease that causes muscle stiffness Myotonia book sometimes weakness.

Stiff muscles can make it hard to walk, eat, and talk. A faulty gene causes myotonia congenita. Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosomal dominant manner (Thomsen disease); the same pathogenic variant may occur in families with both types of inheritance.

In the autosomal dominant form, the proportion of cases caused by de novo path. Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person.

They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia.

Myotonia is de-fined clinically as the occurrence of “delayed relax-ation of muscle after voluntary contraction or per-cussion.”1 Patients with myotonia often complain of muscle stiffness that improves with repeated use of the muscle, the so-called “warm-up phenomenon.” On examination, myotonia may be apparent from.

Myotonia congenita is caused by a genetic change (mutation). It is passed down from either one or both parents to their children (inherited). Myotonia congenita is caused by a problem in the part of the muscle cells that are needed for muscles to relax.

Abnormal repeated electrical signals occur in the muscles, causing a stiffness called myotonia. Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.

The condition is present from early childhood, but symptoms can be mild. "This book is a gem that patients with this condition will want to read and own."--Doody's Journal February About the Author.

Peter Harper is a University Research Professor in Human Genetics at Cardiff University, Wales. He is a member of the UK's Advisory Committee on Genetic Testing, and has a long-standing research interest in Cited by:   Clinical myotonia manifests with painless muscle stiffness, although some forms can be associated with pain.

2, 3 The typical location of stiffness varies depending on the underlying disorder but commonly seen in the eyelids, mouth, hands, and proximal legs. Common triggers include cold, stress and exercise, and symptoms can worsen during.

About Myotonia Congenita: Myotonia congenita is an inherited disorder that affects skeletal muscles. Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue.

Thomsen's myotonia congenita is the less severe of the two disorders, but onset of generalized myotonia is in childhood. Both upper and lower limbs are involved, and the myotonia may be evident on attempting to make rapid movements such as rising from a.

Myotonic dystrophy is a long-term genetic disorder that affects muscle function. It is a type of muscular dystrophy. Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and are unable to relax. Other symptoms may include cataracts, intellectual disability and heart conduction problems.

In men, there may be early balding and an inability to. Both DM1 and DM2 are characterized by muscle weakness and myotonia, heart abnormalities, cataracts and insulin resistance.

In general, DM2 is less severe than DM1: fewer systems are affected, patients develop the disease only as adults, and the disorder’s impact on everyday life is relatively less disruptive. Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use.

Michael Rose, Robert C. Griggs, in Textbook of Clinical Neurology (Third Edition), Myotonia. Myotonia can be exacerbated by some muscle relaxant drugs and by anticholinesterase drugs, and anesthesia for these patients needs to be planned accordingly.

Potassium administration can exacerbate myotonia, and thus potassium supplementation. Myotonic Resources The Facts: Myotonic Dystrophy. Authored by Prof.

Peter Harper, published by Oxford University Press, This one hundred-page book written in easy-to-understand language for families living with myotonic dystrophy is a good place to begin educating yourself.This section discusses 35 medical conditions causing Myotonia.A simple discussion of these causes with additional information is below.

Causes of Myotonia: The following medical conditions are some of the possible causes of are likely to be other possible causes, so ask your doctor about your symptoms.It is a rare genetic disorder characterized by myotonia, muscle stiffness, and abnormal muscle hypertrophy that gives the impression of Herculean or “bodybuilder-like” appearance.

There are two main forms of myotonia congenita that have been described: Thomsen disease and Becker disease.

In Thomsen disease, symptoms and findings are usually.