Factbites
 Where results make sense
About us   |   Why use us?   |   Reviews   |   PR   |   Contact us  

Topic: Myotonic dystrophy


Related Topics

  
  Myotonic dystrophy - Genetics Home Reference
Mutations in the CNBP and DMPK genes cause myotonic dystrophy.
Myotonic dystrophy type 1 is caused by a mutation in the DMPK gene, while a mutation in the CNBP gene is responsible for the less common myotonic dystrophy type 2.
In type 1 myotonic dystrophy, anticipation is caused by an increase in the length of the unstable region in the DMPK gene.
ghr.nlm.nih.gov /condition=myotonicdystrophy   (977 words)

  
 Myotonic Muscular Dystrophy   (Site not responding. Last check: 2007-11-05)
Myotonic dystrophy is transmitted from generation to generation by individuals - men or women - who themselves have inherited the defective gene and have the disease.
Because the defective gene is dominant, only one myotonic dystrophy gene derived from either the father or mother, is required to produce the disease in an offspring.
Congenital myotonic dystrophy is a rare variant of the disease with striking differences from the form it takes among adults.
www.mc.edu /campus/users/beacom/beacom.htm   (478 words)

  
 [No title]
Summary: Myotonic dystrophy (dystrophia myotonica or Steinert's disease) is the commonest adult form of muscular dystrophy, incidence is about 50 per 1,000,000 population).
Myotonic dystrophy is a systemic disorder but the muscular symptomatology is most characteristic.
Genetics: The etiology is due to abnormally large CTG repeats in the untranslated region of the myotonic dystrophy gene (coding for myotonin protein kinase) on chromosome 19q3.3.
moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNN0IE02.htm   (992 words)

  
 Myotonic Dystrophy
Myotonic dystrophy is the most common form of adult onset muscular dystrophy and has an incidence of 1/8000 individuals.
The genetic defect in the disorder is the expansion of a (CTG) trinucleotide repeat in the DM gene.
Molecular diagnosis of myotonic dystrophy at the Greenwood Genetic Center involves a combination of Southern blotting tests and direct PCR analysis to determine the (CTG) repeat number.
www.ggc.org /Diagnostics/Molecular/myotonic_dystrophy.htm   (366 words)

  
 MYOTONIC DYSTROPHY
Myotonic dystrophy shows an early pattern of muscle wasting that is unique among the major muscular dystrophies.
However, when myotonic dystrophy is suspected (because it is present in other members of the family) careful examination may reveal typical abnormalities before obvious symptoms appear.
Myotonic dystrophy is transmitted from generation to generation by individuals — men or women — who themselves have inherited the defective gene and have the disease.
www.mydr.com.au /?article=2419   (1255 words)

  
 Genes at Work - Lab Testing   (Site not responding. Last check: 2007-11-05)
Myotonic dystrophy (DM) is the most common form of adult onset muscular dystrophy.
The disease commonly demonstrates "anticipation", that is, successive generations in families affected with myotonic dystrophy show earlier onset and greater severity of symptoms.
The molecular basis of anticipation is expansion of a CTG triplet repeat in the DM kinase gene.
www.umdnj.edu /genesatwork/labtesting/26_myotonic_dystrophy.html   (424 words)

  
 MYOTONIC MUSCULAR DYSTROPHY   (Site not responding. Last check: 2007-11-05)
Myotonic dystrophy is caused by a defective gene.
A growing body of evidence strongly suggests that myotonic dystrophy is a disease of cell membranes affecting a variety of cell types.
It is known that the defect for myotonic dystrophy is on the long arm of chromosome 19.
www.mda.org.au /specific/mdamyt.html   (1060 words)

  
 Myotonic Dystrophy   (Site not responding. Last check: 2007-11-05)
Myotonic Dystrophy (MYDY) is the most common adult form of Muscular Dystrophy.
The myotonic symptom that is probably the most troublesome is the inability to release the hand from a grip.
Congenital Myotonic Dystrophy is a rare variant of the disease with striking differences from the form it takes amongst adults.
www.hechoenpuertorico.org /myotonic/myotonic.html   (1410 words)

  
 Scientists Find a Gene that Grows Longer with Time
Myotonic dystrophy patients with 50 CTG repeats may appear normal or display minor symptoms, such as cataracts, drooping eyelids or trouble releasing a grip.
Myotonic dystrophy, which usually appears in adolescence or early adulthood, results in weakness and wasting in some muscles and often produces difficulty in muscle relaxation, a condition called myotonia.
Myotonic dystrophy is the third disease found to be related to a gene segment which can change as it is passed from one generation to the next.
www-tech.mit.edu /V112/N7/gene.07n.html   (1368 words)

  
 Myotonic Dystrophy - WrongDiagnosis.com
Myotonic dystrophy is an inherited disorder in which the muscles contract but have decreasing power to relax.
Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION.
Myotonic Dystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
www.wrongdiagnosis.com /m/myotonic_dystrophy/intro.htm   (1043 words)

  
 Myotonic dystrophy type 2 definition - Medical Dictionary definitions of popular medical terms
Myotonic dystrophy, type 2: An inherited disorder of the muscles and other body systems characterized by progressive muscle weakness, prolonged muscle contractions (myotonia), clouding of the lens of the eye (cataracts), cardiac abnormalities, balding, and infertility.
Type 2 myotonic dystrophy is caused by mutation of a different gene than type 1 myotonic dystrophy and tends to be milder than type 1.
Myotonic dystrophy, type 2 is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
www.medterms.com /script/main/art.asp?articlekey=39355   (284 words)

  
 Muscular Dystrophy
Muscular dystrophy is the term used to describe a group of inherited disorders that cause progressive muscle weakness.
Myotonic dystrophy is the most common form of muscular dystrophy, affecting more than 30,000 people in the United States.
Myotonic dystrophy: Symptoms of myotonic dystrophy include facial weakness and a slack jaw, drooping eyelids (ptosis), and muscle loss in the forearms and calves.
www.hmc.psu.edu /healthinfo/m/musculardystrophy.htm   (1669 words)

  
 Myotonic dystrophy Encyclopedia of Medicine - Find Articles
Myotonic dystrophy is a progressive disease that keeps affected muscles from relaxing once they have been contracted or tightened.
Myotonic dystrophy is caused by an inherited gene defect, called a "triple repeat," on chromosome 19.
Myotonic dystrophy cannot be prevented, because it is inherited.
www.findarticles.com /p/articles/mi_g2601/is_0009/ai_2601000942   (982 words)

  
 Myotonic Dystrophy
Myotonic dystrophy is the most common form of muscular disease, which affects adults.
The term muscular dystrophy is used to represent a group of muscle diseases characterized by muscle weakness and wasting of muscles.
Myotonic dystrophy should not be confused with other forms of the disease.
medindia.net /patients/patientinfo/myotonicdystrophy_about.htm   (269 words)

  
 Muscular Dystrophy Canada | Myotonic muscular dystrophy (Steinert's Disease)
Myotonic dystrophy, also known as Steinert's disease, is the most common form of muscle disease, affecting approximately one person in 8,000 worldwide.
Myotonic dystrophy is caused by an error in a gene located on the long arm of chromosome 19.
The basic fault is an unstable inherited mutation in a particular gene known as the myotonic dystrophy protein kinase gene.
www.muscle.ca /content/index.php?id=995   (909 words)

  
 Muscular dystrophy   (Site not responding. Last check: 2007-11-05)
Muscular dystrophy is the name for a group of inherited disorders in which strength and muscle bulk gradually decline.
Myotonic dystrophy is linked to gene defects for a protein that may control the flow of charged particles within muscle cells.
The muscular dystrophies may be confused with diseases involving the motor neurons, such as spinal muscular atrophy; diseases of the neuromuscular junction, such as myasthenia gravis; and other muscle diseases, as all involve generalized weakening of varying distribution.
www.healthatoz.com /healthatoz/Atoz/ency/muscular_dystrophy.jsp   (4164 words)

  
 Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system.
Myotonic dystrophy type 2 is caused by a CCTG repeat expansion in intron 1 of the gene
Myotonic dystrophy type 1 (DM1) appears to be caused by a single mutational mechanism: expanded CTG trinucleotide repeat (>35).
www.geneclinics.org /profiles/myotonic-d/details.html   (4757 words)

  
 Myotonic dystrophy
The most common type of DM is called DM1 and is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK).
It is not unusual for a woman to be diagnosed with DM after she has an infant with congenital myotonic dystrophy.
Myotonic dystrophy cannot be cured, and no treatment can delay its progression.
www.lifesteps.com /gm/Atoz/ency/myotonic_dystrophy_pr.jsp   (1868 words)

  
 Myotonic Dystrophy - DNA Analysis
Myotonic dystrophy is a common autosomal dominant disorder with an estimated incidence of 1 in 8000; however, since mildly affected individuals may not be diagnosed, it is likely to have a higher incidence.
With the identification of the myotonin protein kinase gene which is responsible for myotonic dystrophy came a better understanding of these phenomena.
The mutation causing myotonic dystrophy was found to be an unstable polymorphic trinucleotide CTG repeat.
www.bcm.edu /geneticlabs/tests/dna/myotonicdystrophy.html   (266 words)

  
 MYOTONIC DYSTROPHY/CONGENITAL MYOTONIC DYSTROPHY: Contact a Family - for families with disabled children: information ...
Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease).
Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth.
It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form.
www.cafamily.org.uk /Direct/m57.html   (1381 words)

  
 NeuroCAST - Diagnosis and Management of Myotonic Dystrophy
Congenital Myotonic Dystrophy: Infants with CMyD exhibit muscle weakness, hypotonia, inverted "V" shaped upper lip (see Figure 4) and compromised respiratory function - the latter of which results in a high infant mortality rate.
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.
Cardiac conduction abnormalities: The possibility of cardiac conduction abnormalities in myotonic dystrophy gene carriers dictates periodic electrocardiogram follow-up.
www.neurocast.com /site/content/sessions_05_2002.asp   (2231 words)

  
 Congenital Myotonic Dystrophy   (Site not responding. Last check: 2007-11-05)
Congenital myotonic dystrophy is a rare autosomal dominant disease, which begins to show its symptoms in the intrauterine period and differs significantly from myotonic dystrophy of adults.
We present a family and their latest offspring with myotonic dystrophy, and discuss issues relevant to the disease.
Course, prognosis and complications of childhood-onset myotonic dystrophy.
jpma.org.pk /JPMA/6june03/case2.html   (818 words)

  
 Breeds of Livestock - Myotonic (Wooden Leg) Goats   (Site not responding. Last check: 2007-11-05)
Myotonic goats are also called Wooden Leg goats, "stiff leg" or Tennessee fainting goats.
Myotonic means when they are frightened or excited they "lock up" and often fall over (faint) and lie very stiff for a few seconds.
Myotonic goats which have been selected for meat production are heavy rumped, deep chested animals.
www.ansi.okstate.edu /breeds/goats/myotonic   (398 words)

  
 Dystrophy, Myotonic
It is possible that the main title of the report Dystrophy, Myotonic is not the name you expected.
Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multi-system disorder that affects both smooth and skeletal muscles and may affect the central nervous system, heart, eyes, and/or endocrine systems.
Myotonic dystrophy type 2 (DM2), formerly called proximal myotonic myopathy (PROMM) is an autosomal dominant disorder with symptoms that are similar to DM1, but tend to be milder and more variable than DM1.
www.webmd.com /hw/brain_nervous_system/nord357.asp   (541 words)

  
 The Myotonic Dystrophy Forum - Home   (Site not responding. Last check: 2007-11-05)
Myotonic Dystrophy is the most common and variable form of muscular dystrophy.
The aim of the Myotonic Dystrophy Forum is to spread awareness and create an online community for those with an interest in, or affected by Myotonic Dystrophy.
Any posts in the Myotonic Dystrophy Forum are posted by individuals acting in their own right and do not necessarily reflect the views of the site or its users.
www.myotonicdystrophy.org.uk   (390 words)

  
 Myotonic dystrophy - Wikipedia, the free encyclopedia
Myotonic dystrophy is inherited in an autosomal dominant pattern.
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.
Myotonic Dystrophy Toronto Support Group serving patients in southern Ontario (Canada).
en.wikipedia.org /wiki/Myotonic_dystrophy   (3145 words)

  
 Domiciliary-Assisted Ventilation in Patients With Myotonic Dystrophy -- Nugent et al. 121 (2): 459 -- Chest   (Site not responding. Last check: 2007-11-05)
Myotonic dystrophy is an autosomal dominant multisystem disease
myotonic dystrophy and may also occur in the absence of respiratory failure.
Carroll, JE, Zwillich, CW, Weil, JV (1977) Ventilatory response in myotonic dystrophy.
www.chestjournal.org /cgi/content/full/121/2/459   (2769 words)

  
 Myotonic dystrophy - References - Genetics Home Reference
These sources were used to develop the Genetics Home Reference condition summary on myotonic dystrophy.
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
ghr.nlm.nih.gov /condition=myotonicdystrophy/show/References   (181 words)

  
 Myotonic Dystrophy Information on Healthline
Relationship between phenotype and CTG repeat length in myotonic dystrophy
Myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction.
Congenital means that the condition is present from birth.
www.healthline.com /galecontent/myotonic-dystrophy   (1014 words)

Try your search on: Qwika (all wikis)

Factbites
  About us   |   Why use us?   |   Reviews   |   Press   |   Contact us  
Copyright © 2005-2007 www.factbites.com Usage implies agreement with terms.