Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by a wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations, a phenomenon termed anticipation. There are three classifications of DM, each having different associated symptoms. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // G00-G99 - Diseases of the nervous system (G00-G09) Inflammatory diseases of the central nervous system (G00) Bacterial meningitis, not elsewhere classified (G01) Meningitis in bacterial diseases classified elsewhere (G02) Meningitis in other infectious and parasitic diseases classified elsewhere (G03) Meningitis due to other and unspecified causes (G04) Encephalitis, myelitis... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Look up chronic in Wiktionary, the free dictionary. ... The term disease refers to an abnormal condition of an organism that impairs function. ... Cataract is also used to mean a waterfall or where the flow of a river changes dramatically. ... The endocrine system is a control system of ductless endocrine glands that secrete chemical messengers called hormones that circulate within the body via the bloodstream to affect distant organs. ... Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. ... In medicine, anticipation is the severity of a genetic disorder increasing with each generation. ...

Classification

Myotonic dystrophy is the most common form of adult onset muscular dystrophy and the second most common form of any skeletal muscle disease after Duchenne muscular dystrophy. There are currently two known types of adult onset DM: Myotonic dystrophy type 1 (DM1), also known as Steinert's disease, and Myotonic dystrophy type 2 (DM2), commonly referred to as PROMM or proximal myotonic myopathy. Both are identifiable by DNA analysis. DM1 also has a congenital form that can severely affect babies and a childhood onset form. Further forms of myotonic dystrophy (DM3, DMX) are currently suspected by researchers to exist. Muscular Dystrophy is a genetic condition that describes over 20 genetic and hereditary muscle diseases. ... Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue starting in the legs and pelvis and later affecting the whole body. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ...

Differences between DM1 and DM2

While both diseases are considered slow degenerative conditions, DM2 is considered to be generally milder than DM1. The severe congenital form that affects babies in DM1 has not been found in DM2 and the early onset of symptoms is rarely noted to appear in younger patients in the medical literature. The repeat expansion for DM2 is considerably larger than for DM1, ranging from 75 to over 11,000. Unlike DM1, the size of the repeated DNA expansion does not appear to make a difference in the age of onset or disease severity in DM2. Anticipation is a common feature of DM1. It appears to be less significant in type 2 and most current reviews only report mild anticipation as a feature of DM2. The word degeneracy has more than one meaning: In general, degeneracy means reverting to an earlier, simpler, state The term moral degeneracy is sometimes used by speakers commenting on the morality (or lack thereof) of a society: this usage has its roots in the concept of atavism. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ...

Symptoms

Presentation of symptoms varies considerably by form (DM1/DM2), severity and even unusual DM2 phenotypes. DM1 patients often present with myotonia, disabling distal weakness and severe cognitive problems. DM2 patients commonly present with muscle pain, stiffness, fatigue, or the development of proximal lower extremity weakness (Day & al, 2003). The characteristic pattern of weakness is different for DM1 and DM2: In DM1, it is noted in face and jaw muscles, the drooping of the eyelids (ptosis), weakness of the neck muscles, hands and lower legs. In DM2, the weakness is more evident in proximal muscles, those closer to the trunk of the body: neck, shoulders, hip flexors and upper legs. Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. ... In zootomy, several terms are used to describe the location of organs and other structures in the body of bilateral animals. ... Stiffness is the resistance of an elastic body to deflection or deformation by an applied force. ... “Fatigue (physical)” redirects here. ... Ptosis is the paralysis of the muscles of the eyelid. ...

Noted DM1 symptoms which are considered less severe or common for DM2 are problems with smooth muscle (including G.I. symptoms), hypersomnia (daytime sleepiness), muscle wasting, dysphagia and respiratory insufficiency. DM1 patients may experience a more diverse range of cognitive problems than DM2. Depending on what form they have and the degree of severity, DM1 cognitive problems may range from developmental delays, learning problems, language, speech, behaviour, apathy or hypersomnia. Cognitive manifestations for DM2 include problems with executive function (i.e. organization, concentration, word-finding etc) and hypersomnia. Conduction abnormalities are more common in DM1 than DM2, but all patients are advised to have an annual ECG. Insulin resistance is a significant risk factor in both forms of the disease for diabetes, cholesterol, heart, stroke, lipids, fatty liver, etc. Dysphagia () is a medical term defined as difficulty swallowing. ... Respiration can refer to: Cellular respiration, which is the use of oxygen in the metabolism of organic molecules. ... This article or section does not cite any references or sources. ... Behavior or behaviour refers to the actions or reactions of an object or organism, usually in relation to the environment. ... Apathy is a psychological term for a state of indifference — where an individual is unresponsive or indifferent to aspects of emotional, social, or physical life. ... Hypersomnia, also known as excessive daytime sleepiness (EDS), is excessive amount of sleepiness. ... ECG may also refer to the East Coast Greenway Lead II An Electrocardiogram (ECG or EKG, abbreviated from the German Elektrokardiogramm) is a graphic produced by an electrocardiograph, which records the electrical voltage in the heart in the form of a continuous strip graph. ... Insulin (from Latin insula, island, as it is produced in the Islets of Langerhans in the pancreas) is a polypeptide hormone that regulates carbohydrate metabolism. ... This article is about the disease that features high blood sugar. ... Cholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ... The heart and lungs, from an older edition of Grays Anatomy. ... Stroke is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. ... Figure 1: Basic lipid structure. ... Fatty liver (also known as steatorrhoeic hepatosis or steatosis hepatis) is a reversible condition where large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. ...

Testing for insulin resistance must be at least 3 hours and include serial monitoring of the lipid profile and intermittent assessment of oral glucose tolerance testing as per the report from the 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management (2006) Diabetes type 2 is suspected of being more common in DM2 than in DM1. Generally far fewer DM2 patients require assistive devices (canes, walkers, wheelchairs, scooters) than in DM1, though they experience increasing difficulties climbing stairs as the disease progresses, and falling or stumbling may sometimes be reported. Glucose (Glc), a monosaccharide (or simple sugar), is the most important carbohydrate in biology. ... A cane is a long stick, generally of bamboo, malacca (rattan), or some similar plant, used as a walking stick; as a support for growing plants; for marking out a piece of ground; or as a material for consturcting furniture or buildings. ... Walkers Logo, introduced February 2006 This article is about the snack food, for the locomotive activity see walking. ... Wheelchair seating A wheelchair is a device used for mobility by people for whom walking is difficult or impossible, due to illness or disability. ... A modern scooter A scooter is any of several related types of vehicle. ... The term disease refers to an abnormal condition of an organism that impairs function. ...

Genetics

Myotonic dystrophy is inherited in an autosomal dominant pattern.

DM is a genetic condition which is inherited in an autosomal dominant pattern, meaning that inheriting a mutant gene from one parent will result in the condition. There is a 50% chance of inheriting DM from an affected parent. In DM1, the affected gene is called DMPK (myotonic dystrophy protein kinase) which codes for a myosin kinase expressed in skeletal muscle. The gene is located on the long arm of chromosome 19. DM2 is similarly caused by a defect of the ZNF9 gene on chromosome 3q21. Image File history File links Autodominant. ... Image File history File links Autodominant. ... Look up Genetic in Wiktionary, the free dictionary. ... It has been suggested that this article or section be merged into Dominance relationship. ... Chromosome 19 is one of the 23 pairs of chromosomes in humans. ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. ...

DM is one of several known trinucleotide repeat disorders. Certain areas of DNA have repeated sequences of two or three nucleotides. In DM1, there is a triplet repeat of Cytosine - Thymine - Guanine (CTG) in the DMPK gene. The number of repeats varies greatly from person to person, but the average number in a healthy person is between 5 and 37. Sometimes when repetitive sequences of DNA are replicated during cell division the cellular machinery slips and an extra copy of the triplet repeat is added to the sequence. Once there are more than 37 triplet repeats in the DMPK gene the sequence becomes unstable and slippage becomes a lot more likely to happen. People affected with DM1 have over 50 and can have as many as 2000 repeats. Trinucleotide repeat disorders are due to stretches of DNA in a gene that contain the same trinucleotide sequence repeated many times. ... The structure of part of a DNA double helix Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the development and function of living organisms. ... A nucleotide is an organic molecule consisting of a heterocyclic nucleobase (a purine or a pyrimidine), a pentose sugar (deoxyribose in DNA or ribose in RNA), and a phosphate or polyphosphate group. ... Cytosine is one of the 5 main nucleobases used in storing and transporting genetic information within a cell in the nucleic acids DNA and RNA. It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an amine group at position 4 and a keto group at... For the similarly-spelled vitamin compound, see Thiamine Thymine, also known as 5-methyluracil, is a pyrimidine nucleobase. ... Guanine is one of the five main nucleobases found in the nucleic acids DNA and RNA; the others being adenine, cytosine, thymine, and uracil. ... This does not adequately cite its references or sources. ...

The result of this is that the repeat size of an individual with DM1 will become larger the older they are. This explains the phenomenon of anticipation, as each child of an affected adult will have a larger expansion than their parent due to slippage during gametogenesis. Individuals with larger expansions have an earlier onset of the disorder and a more severe phenotype. The repeat expansion for DM2 is much larger than for DM1, ranging from 75 to over 11000 repeats. Unlike DM1, the size of the repeated DNA expansion does not appear to make a difference in the age of onset or disease severity in DM2. Anticipation appears to be less significant in DM2 and most current reviews only report mild anticipation as a feature of DM2. This article does not cite any references or sources. ... In medicine, anticipation is the severity of a genetic disorder increasing with each generation. ... Gametogenesis is the creation of gametes by meiotic division of gametocytes into various gametes. ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...

Diagnosis

The diagnosis of DM1 and DM2 are most likely to occur by doctors with specialized training in both neurology and adult neuromuscular disorders. Neurology is a branch of medicine dealing with disorders of the nervous system. ... Main Entry: neu·ro·mus·cu·lar Pronunciation: nur-O-m&s-ky&-l&r, nyur- of or relating to nerves and muscles; especially : jointly involving nervous and muscular elements <a neuromuscular junction> ...

Family doctors are generalists who are more likely to follow advances in conditions they commonly see in their practice. They may not always recognize symptoms that appear unrelated which could alert them to the presence of a complex underlying multisystemic disorder such as DM1 or DM2 and fail to refer patients to a specialist familiar with these disorders. Depending on the presentation of symptoms, patients may be referred to a number of medical specialists including cardiologists, ophthalmologists, endocrinologists, rheumatologists. ... Ophthalmology is the branch of medicine which deals with the diseases of the eye and their treatment. ... Endocrinology is a branch of medicine dealing with disorders of the endocrine system and its specific secretions called hormones. ... Rheumatology, a subspecialty of internal medicine, is devoted to the diagnosis and treatment of rheumatic diseases. ...

Neuromuscular disorders can cover more than 40 different diseases and additional forms of these bring the number of distinct disorders closer to 100. Many diseases have seen dramatic advances in the research literature like DM1 and DM2 and it is not humanly possible for all doctors to closely follow all research. In general, the diagnostic criteria for DM2 is less known because the research in the area is relatively new and takes a long time to filter down effectively to all clinicians.

Some neuromuscular specialists focus primarily on many of the childhood onset neuromuscular diseases, while others may have research and clinical interests focused on specific diseases such as ALS and may be unaware of the potential relationship of specific symptoms to DM. It is common that the clinical presentation for both DM1 and DM2 patients does not conform to the perceptions of these diseases held by many neurologists. Clinicians who are less familiar with the myotonic dystrophies in their day to day practice may expect patients with both forms to present with the more severe classic symptoms of DM1. As a result, patients may remain undiagnosed or be misdiagnosed. suck my mommas cock bitch ...

In addition, the clinical presentation for patients can vary considerably depending on the degree of severity or the presence of unusual phenotypes. This can legitimately make diagnosis more difficult for these patients. Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...

Since there is presently no cure for DM and management is currently symptom based, many clinicians also do not recognize the importance of a precise diagnosis. They are unaware of significant health risks, including potentially fatal ones which even mildly affected DM1 & DM2 patients should be routinely monitored for (i.e. cardiac conduction issues, insulin resistance, cataracts). An accurate diagnosis is important to assist with appropriate medical monitoring and medical management of symptoms. In addition, genetic counseling should be made available to all patients because of the high risk of transmission. Anesthetic considerations are important to note. Anesthesia (AE), also anaesthesia (BE), is the process of blocking the perception of pain and other sensations. ...

Management

No specific treatment has been found for the muscle weakness and wasting in myotonic dystrophy. Leg braces can help to support muscles as weakness progresses. However, there are medications that can relieve the myotonia. Heart problems, cataracts, and other abnormalities associated with the condition can also be treated but not cured. Modafinil (Provigil) can help with excessive sleepiness Weakness can mean: The opposite of strength Weakness (medical) This is a disambiguation page — a navigational aid which lists pages that might otherwise share the same title. ... In medical circles, wasting refers to the process by which a debilitating disease causes muscle and fat tissue to waste away. ... Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. ...

Screening

Screening for the DMPK gene for DM1 is targeted at chromosome 19 while the ZNF9 gene for DM2 is found on chromosome 3. Genetic tests are available for both confirmed forms. Further forms of myotonic dystrophy (DM3, DMX) are suspected by researchers with possible defects on chromosome 16 and chromosome 21. Chromosome 19 is one of the 23 pairs of chromosomes in humans. ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. ... Chromosome 21 is one of the 23 pairs of chromosomes in humans. ...

Recommended Reading

• Sir Peter S. Harper,. Myotonic Dystrophy: The Facts : A Book for Patients and Families (Oxford Medical Publications). Oxford [Oxfordshire]: Oxford University Press. ISBN 0-19-852586-9. 
• Peter S. Harper... [et al.] (2004). Myotonic dystrophy: present management, future therapy. Oxford [Oxfordshire]: Oxford University Press. ISBN 0-19-852782-9. 
• Robert D. Wells (Editor), Tetsuo Ashizawa (Editor). Genetic Instabilities and Neurological Diseases, Second Edition, 2006. Boston: Academic Press. ISBN 0-12-369462-0.  This book has chapters on multiple disorders including both Steinhart’s (DM1) and PROMM (DM2). The revised 2006 edition is the first print resource to have a full chapter on DM2: Myotonic Dystrophy Type 2: Clinical and Genetic Aspects by Krahe, Bachinski, and Udd This book is intended to be a reference for medical professionals such as neurologists, neuroscientists, biochemists, geneticists, molecular biologists & human geneticists.

Oxford University Press (OUP) is a highly-respected publishing house and a department of the University of Oxford in England. ... Oxford University Press (OUP) is a highly-respected publishing house and a department of the University of Oxford in England. ... Nickname: City on the Hill, Beantown, The Hub (of the Universe)1, Athens of America, The Cradle of Revolution, Puritan City, Americas Walking City Location in Massachusetts, USA Counties Suffolk County Mayor Thomas M. Menino(D) Area    - City 232. ... Academic Press (London, New York and San Diego) was an academic book publisher that is now part of Elsevier. ...

Research and Reviews

The research on DM1 /DM2 /DM3 has rapidly evolved over the last decade. Always note dates of research or the update period for websites to provide context for how current and accurate the information may be. Although the newest research is rarely available without journal subscription, there are many free online reports and reviews which discuss the clinical spectrum of symptoms, therapies, etc for both DM1 and DM2. These papers are a collaborative effort by those on the front lines to document the current state of research and should be used as a resource by doctors for guidance on diagnosis and management.

• Review DM 1,2,3
• 123rd ENMC International Workshop 2004: Management and Therapy in Myotonic Dystrophy
• 140th ENMC International Workshop 2006: Myotonic Dystrophy DM2/PROMM and other Myotonic dystrophies

External links

NOTE: The research on DM1 /DM2 /DM3 has rapidly evolved over the last decade. Always note update period for websites to provide context for how current and accurate the information may be. The better websites tend to have updated information on both DM1 and DM2, and provide some differentiation between them.

DM1 Websites

• Dutch Neuromuscular Research, Myotonic Dystrophy type 1
• Scottish Muscle Network Myotonic Dystrophy Type 1
• GeneTests at NIH/UW myotonic-d
• Overview of condition, Genetics Home Reference at NLM
• Molecular Aspects of Myotonic Dystrophy Type 1

The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... The University of Washington, founded in 1861, is a public research university in Seattle, Washington. ... The U.S. National Library of Medicine (NLM), operated by the U.S. federal government, is the worlds largest medical research library. ...

DM2 Websites

• Dutch Neuromuscular Research, Myotonic Dystrophy type 2
• GeneTests at NIH/UW myotonic-d2
• Myotonic Dystrophy DM2/PROMM
• Differential Diagnosis DM2/PROMM
• Genetic, Prognosis for

The National Institutes of Health (NIH) is the primary agency of the United States government responsible for medical research. ... The University of Washington, founded in 1861, is a public research university in Seattle, Washington. ...

DM3 Websites

• 140th ENMC International Workshop 2006: Myotonic Dystrophy DM2/PROMM and other Myotonic dystrophies

Patient Support

• International Myotonic Dystrophy Organization
• Logan Page Foundation
• MDSG Information

Web-based discussion group for patients diagnosed with DM

• DM1 Yahoo Groups Forum
• DM2 Yahoo Groups Forum
• DM3 Yahoo Groups Forum
• Myotonic Dystrophy Forum

Regional Support Groups

• United Kingdom: Myotonic Dystrophy Support Group
• World Support Forum Myotonic Dystrophy Forum
• Canada: Myotonic Dystrophy Toronto Support Group
• United States: Regional support groups currently exist or are being launched in: Los Angeles, California, Atlanta, Georgia, Salt Lake City, Utah, Phoenix, Arizona, South Florida, Indiana /Ohio /Kentucky. Contact your local MDA for further info.

Muscular Dystrophy

• Muscular Dystrophy Assocation
• Neuromuscular Disease Center
• Scottish Muscle Network
• Dutch Neuromuscular Research
• Muscular Dystrophy Association's website in Greece
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