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Myotonic dystrophy - Clinical characteristics of myotonic dystrophy | A Wisdom Archive on Myotonic dystrophy - Clinical characteristics of myotonic dystrophy | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy A selection of articles related to Myotonic dystrophy - Clinical characteristics of myotonic dystrophy | |
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More material related to Myotonic Dystrophy can be found here:
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Myotonic dystrophy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Overview, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Summary
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ARTICLES RELATED TO Myotonic dystrophy - Clinical characteristics of myotonic dystrophy | | | |  Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical characteristics of myotonic dystrophyIndividuals affected with DM1 and DM2 can present with a range of symptoms, including myotonia, muscle weakness and wasting, cataracts, foot drop, hyperinsulinism, and smooth muscle problems. Weakness of the voluntary muscles in the arms and legs tends to be the first symptom noticed by affected individuals.
The prolonged muscle spasms and stiffening that characterize myotonia are caused by irregularities in the ion channels of the muscle membr ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical characteristics of myotonic dystrophy |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Overview Myotonic dystrophy (DM) is the most common muscular dystrophy in adults, and is the second most common muscular dystrophy after Duchenne muscular dystrophy. It is an autosomal dominant genetic disorder affecting one in 8,000 individuals. Onset is usually in the second or third decade and the life span of affected individuals is typically six decades. A congenital form of DM can occur in second or third generations, however, and can be fatal for affected infants. Characteristics of DM include myotonia, as well as progressive weakening ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Overview |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Genetic counseling considerations Although DM is inherited as a classic autosomal dominant disease, incomplete penetrance, possible anticipation, and extreme variation in clinical expression make genetic counseling a critical component of DM diagnosis and case management.
Genetic counseling encompasses the clinical, technical and psychosocial components of genetic testing and disease. The genetic counseling process is an opportunity for patients to explore their questions and concerns about genetic disease and testing, as well as a mean ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Genetic counseling considerations |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Molecular testing for myotonic dystrophy DNA diagnostic tests that measure the length of the CTG repeat expansion responsible for DM1 can now establish the diagnosis of DM1 with molecular certainty. These tests have supplanted the extensive clinical workup formerly required to document the multi-systemic clinical features of the disorder. The recent identification of the CCTG repeat expansion in the ZNF9 gene has made it possible to quantify the length of the expansion implicated in DM2, as well.
Individuals testing positive for DM1 and DM2 should receive annual cardiac and ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Molecular testing for myotonic dystrophy |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Management of patients with myotonic dystrophy While there is no cure for myotonic dystrophy, managing the clinical manifestations of the disorder can greatly improve the quality of life of individuals affected with this disorder.
Myotonic dystrophy - Myotonia.
Because myotonia precedes weakness in adult onset DM, electromyograms can aid in the assessment of disease progression. Myotonia can be controlled with phenytoin, carbamazepine, or quinine su ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Management of patients with myotonic dystrophy |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM DM2 is phenotypically similar to DM1. Affected individuals may present with proximal and distal limb weakness, myotonia, cardiac arrhythmias, frontal balding and cataracts.
Unlike DM1, there is no reported correlation between repeat expansion size and age of onset and severity of symptoms for DM2. In addition, there is no reported congenital form of the disorder.
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See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease The clinical findings of DM1 can be categorized into three overlapping phenotypes - mild, classical and congenital (CMyD).
Myotonic dystrophy - Mild DM.
Individuals affected with the mild DM phenotype may lead active lives and be unaware that they have the disorder. If they note muscle weakness or mild myotonia, they may attribute it to "stiffness" or arthritis. Clinical findings of cataracts or diabetes mellitus, in the absence of marked muscle weakness, pronounced myotonia, or family history of DM, are u ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease |
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| | | | Myotonic dystrophy - Clinical characteristics of myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Genetics of myotonic dystrophy DM1 and CMyD are caused by an abnormal trinucleotide (CTG) repeat expansion in the DM1 locus on chromosome 19q13.3.
DM2 is caused by an abnormal tetranucleotide (CCTG) repeat expansion in the DM2 locus on chromosome 3q21.
Exactly how the expansions in the DMPK and ZNF9 genes result in DM are unknown. Researchers hypothesize that after the repeat expansion is transcribed in RNA, the RNA has a pathogenic effect that disrupts cellular function. For example, in the case of DM1, the CTG repeat expansion (transcribed as CUG in the RN ...
See also:Myotonic dystrophy, Myotonic dystrophy - Overview, Myotonic dystrophy - Clinical characteristics of myotonic dystrophy, Myotonic dystrophy - Clinical features of myotonic dystrophy type 1 Steinert's disease, Myotonic dystrophy - Mild DM, Myotonic dystrophy - Classical DM, Myotonic dystrophy - Congenital Myotonic Dystrophy, Myotonic dystrophy - Correlation between expansion length and clinical signs in DM1 and CMyD, Myotonic dystrophy - Clinical Features of Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy or PROMM, Myotonic dystrophy - Genetics of myotonic dystrophy, Myotonic dystrophy - Management of patients with myotonic dystrophy, Myotonic dystrophy - Myotonia, Myotonic dystrophy - Muscle weakness and wasting, Myotonic dystrophy - Cardiac conduction abnormalities, Myotonic dystrophy - Respiratory Complications, Myotonic dystrophy - Pregnancy, Myotonic dystrophy - CMyD, Myotonic dystrophy - Complications from anesthesia, Myotonic dystrophy - Genetic counseling considerations, Myotonic dystrophy - Molecular testing for myotonic dystrophy, Myotonic dystrophy - Summary Read more here: » Myotonic dystrophy: Encyclopedia II - Myotonic dystrophy - Genetics of myotonic dystrophy |
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More material related to Myotonic Dystrophy can be found here:
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