Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness.^[1][2] Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.^[3] Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy^[4] but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs.^[4] 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 International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // 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 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 is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... 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. ... This article is about the general scientific term. ... For the scientific journal Heredity see Heredity (journal) Heredity (the adjective is hereditary) is the transfer of characters from parent to offspring, either through their genes or through the social institution called inheritance (for example, a title of nobility is passed from individual to individual according to relevant customs and... Neuromuscular disease is a very broad term that encompasses many diseases and ailments that either directly (via intrinsic muscle pathology) or indirectly (via nerve pathology) impair the functioning of muscle. ... A top-down view of skeletal muscle Skeletal muscle is a type of striated muscle, usually attached to the skeleton. ... A representation of the 3D structure of myoglobin showing coloured alpha helices. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell being used to describe the smallest unit of a living organism Cells in culture, stained for keratin (red) and DNA (green) The cell is the... Biological tissue is a collection of interconnected cells that perform a similar function within an organism. ... Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. ... Beckers muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. ... Limb-girdle muscular distrophy or Erbs muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Beckers muscular dystrophy, and a large number of rarer disorders. ... It has been suggested that this article or section be merged into muscular dystrophy. ... Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy that initially affects muscles of the face (facio), scapula (scapulo) and upper arms (humeral). ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx. ... Distal muscular dystrophy (or distal myopathy) are a group of disorders characterized by onset in the hands or feet. ... Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. ...

History

The first historical account of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys. Six years later, another scientist reported on two brothers who developed generalized weakness, muscle damage, and replacement of damaged muscle tissue with fat and connective tissue. At that time the symptoms were thought to be signs of tuberculosis.^{[citation needed]} Liberty Leading the People by Eugène Delacroix commemorates the July Revolution 1830 (MDCCCXXX) was a common year starting on Friday (see link for calendar). ... For other persons named Charles Bell, see Charles Bell (disambiguation). ... Tuberculosis (abbreviated as TB for tubercle bacillus or Tuberculosis) is a common and deadly infectious disease caused by mycobacteria, mainly Mycobacterium tuberculosis. ...

In the 1850s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of 13 boys with the most common and severe form of the disease (which now carries his name — Duchenne muscular dystrophy). It soon became evident that the disease had more than one form, and that these diseases affected people of either sex and of all ages.^{[citation needed]} Guillaume Benjamin Amand Duchenne (born September 17, 1806 in Boulogne; died September 15, 1875) was a French neurologist. ...

Genetic cause

These conditions are inherited, and the different muscular dystrophies follow various inheritance patterns. The best-known type, Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must generally be present in both copies of the gene to cause the disorder (relatively rare exceptions, manifesting carriers, do occur due to dosage compensation/X-inactivation). Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of DMD cases, an affected male inherits the mutation from a mother who carries one altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. Females who carry one copy of a DMD mutation may have some signs and symptoms related to the condition (such as muscle weakness and cramping), but these are typically milder than the signs and symptoms seen in affected males. Duchenne muscular dystrophy and Becker's muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase.^[5][6] The dystrophin gene is the largest gene in humans.^[7] To inherit something is to get it from ones ancestors. ... Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... This article is about the biological chromosome. ... Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ... Dosage compensation is a genetic regulatory mechanism which operates to equalize the phenotypic expression of characteristics determined by genes on the X chromosome so that they are equally expressed in the human XY male and the XX female. ... In those species in which sex is determined by the presence of the Y or W chromosome rather than the diploidy of the X or Z, a Barr body is the inactive X chromosome in a female cell, or the inactive Z in a male. ... This article or section does not adequately cite its references or sources. ... Meanings of DMD: D compiler written by Digital Mars Dante Must Die; a difficulty mode in the Devil May Cry series known for its severe arduousness (perhaps except for the second title) Data Mapping Document; a document describing the transfer of data between two computer applications or systems Differential Mode... For linguistic mutation, see Apophony. ... Meanings of DMD: D compiler written by Digital Mars Dante Must Die; a difficulty mode in the Devil May Cry series known for its severe arduousness (perhaps except for the second title) Data Mapping Document; a document describing the transfer of data between two computer applications or systems Differential Mode... Meanings of DMD: D compiler written by Digital Mars Dante Must Die; a difficulty mode in the Devil May Cry series known for its severe arduousness (perhaps except for the second title) Data Mapping Document; a document describing the transfer of data between two computer applications or systems Differential Mode... For linguistic mutation, see Apophony. ... Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. ... Beckers muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. ... For linguistic mutation, see Apophony. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ... A representation of the 3D structure of myoglobin showing coloured alpha helices. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Creatine Kinase Creatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme (EC 2. ...

Symptoms

Principal symptoms include:

• Progressive Muscular Wasting (weakness)
• Poor Balance
• Frequent Falls
• Walking Difficulty
• Waddling Gait
• Calf Pain
• Limited Range of Movement
• Muscle Contractures
• Respiratory Difficulty
• Drooping Eyelids (ptosis)
• Gonadal Atrophy
• Scoliosis (curvature of the spine)
• Inability to walk

Some types of Muscular Dystrophy can affect the heart, causing cardiomyopathy or arrhythmias. Ptosis is the paralysis of the muscles of the eyelid. ... Atrophy is the partial or complete wasting away of a part of the body. ... A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...

Diagnosis

The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. In some cases, a DNA blood test may be all that is needed. In medicine, a muscle biopsy is a procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. ...

A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.

Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

Prognosis

The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

Treatment

There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease. Physical therapy, Occupational therapy, speech therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful. Bed rest is a doctors prescription to spend a longer period of time in bed. ... Physical therapy (or physiotherapy[1]) is the provision of services to people and populations to develop, maintain and restore maximum movement and functional ability throughout the lifespan. ... Wheelchair seating in a theater. ... A standing frame (also known as a stand, stander, standing technology, standing aid, standing device, standing box, tilt table) is assistive technology used by a child or adult who uses a wheelchair for mobility. ...

There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition when an individual with a muscular dystrophy grows and the muscles don't move with the bones and can easily be slowed down and/or make the individual's body straighter by daily physical therapy), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine but no actual long term treatment has been found. Contracture can refer to: Dupuytrens contracture Volkmanns contracture Capsular contracture This is a disambiguation page: a list of articles associated with the same title. ... An orthosis is a device that is applied to a part of the body to correct deformity, improve function, or relieve symptoms of a disease. ... This fracture of the lower cervical vertebrae, known as a teardrop fracture is one of the conditions treated by orthopaedic surgeons. ... Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... A pacemaker, scale in centimeters A pacemaker (or artificial pacemaker, so as not to be confused with the hearts natural pacemaker) is a medical device which uses electrical impulses, delivered by electrodes contacting the heart muscles, to regulate the beating of the heart. ... Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. ... Quinine (IPA: ) is a natural white crystalline alkaloid having antipyretic (fever-reducing), anti-smallpox, analgesic (painkilling), and anti-inflammatory properties and a bitter taste. ... Phenytoin sodium (marketed as Dilantin® in the USA and as Epanutin® in the UK, by Parke-Davis, now part of Pfizer) is a commonly used antiepileptic. ... Mexiletine (INN, sold under the trade name Mexitil®) belongs to the Class IB anti-arrhythmic group of medicines. ...

Occupational therapy assists the individual with MD in engaging in his/her activities of daily living (self-feeding, self-care activities, etc) and leisure activities at the most independent level possible. This may be achieved with use of adapted equipment or the utilization of energy conservation techniques. Occupational therapy may also implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany MD as well as provide support and education about the disease to the family and individual (^[8]). Occupational therapy refers to the use of meaningful occupation to assist people who have difficulty in achieving healthy and balanced life; and to enable an inclusive society so that all people can participate to their potential in daily occupations of life. ... Activities of daily living (ADLs), is a way to describe the functional status of a person. ...

Research Projects

A grid computing-based research project called "Help Cure Muscular Dystrophy" was launched on December 19, 2006 by Décrypthon. The Jain Foundation is involved in research into Miyoshi myopathy, a form of distal muscular dystrophy and LGMD2B, a limb-girdle muscular dystrophy.^[9] Grid computing is a phrase in distributed computing which can have several meanings: Multiple independent computing clusters which act like a grid because they are composed of resource nodes not located within a single administrative domain. ... World Community Grid (WCG) is an effort to create the worlds largest public computing grid to tackle scientific research projects that benefit humanity. ... is the 353rd day of the year (354th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Distal muscular dystrophy (or distal myopathy) are a group of disorders characterized by onset in the hands or feet. ... Distal muscular dystrophy (or distal myopathy) are a group of disorders characterized by onset in the hands or feet. ... Limb-girdle muscular distrophy or Erbs muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Beckers muscular dystrophy, and a large number of rarer disorders. ...

MY0-029

Main article: Stamulumab

MYO-029 is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. Myostatin is a protein that inhibits the growth of muscle tissue, MYO-029 is a recombinant human antibody designed to bind and inhibit the activity of myostatin. A 2005/2006 trial was completed by Wyeth in Collegeville, PA. As of April 2007, the results of the study have not yet been made public, but it is one of the few known drugs in development for the treatment for muscular dystrophy. Stamulumab (MYO-029) is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. ... Stamulumab (MYO-029) is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. ... Myostatin (formerly known as Growth differentiation factor 8) is a growth factor that limits muscle tissue growth, i. ... Wyeth, formerly known as American Home Products, is one of the largest pharmaceutical companies in the world. ...

National research and support in the United States

Within the United States, the three primary federally funded organizations that focus on Muscular Dystrophy include the National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Child Health and Human Development (NICHD).^[4] The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health. ... NIAMS, the United States National Institute of Arthritis and Musculoskeletal and Skin Diseases, is a division of the National Institutes of Health. ... The National Institutes of Health is an institution of the United States government which focuses on medical research. ...

In 1966, the Muscular Dystrophy Association began its annual Jerry Lewis MDA Telethon, which has arguably done more to raise awareness of muscular dystrophy than any other event or initiative. Muscular Dystrophy Association (MDA) is a U.S. organization founded in 1950 which combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services, and educating health professionals and the general public. ... The Jerry Lewis MDA Telethon is hosted by Jerry Lewis to raise money for the Muscular Dystrophy Association. ...

On December 18, 2001 the MD CARE Act was signed into law and amends the Public Health Service Act to provide research for the various muscular dystrophies. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy.^[10][11] is the 352nd day of the year (353rd in leap years) in the Gregorian calendar. ... This article is about the year. ... The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act, Pub. ... Table of Contents Public Health Service Act References are to Title 42 United States Code TITLE 42 - THE PUBLIC HEALTH AND WELFARE CHAPTER 6A - PUBLIC HEALTH SERVICE Subchapter I - Administration and Miscellaneous Provisions Part A - Administration § 201 Definitions Part B - Miscellaneous Provisions §238 Gifts for Benefit of Service §238a Use... The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act, Pub. ...

Types of Muscular Dystrophy

Becker's muscular dystrophy (BMD)

Main article: Becker's muscular dystrophy

Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin.^[4] Beckers muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. ... Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. ...

Survival is usually into middle age. ^[12]

Congenital muscular dystrophy

Main article: Congenital muscular dystrophy

Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.^{[citation needed]} It has been suggested that this article or section be merged into muscular dystrophy. ...

Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be pair with effects on the brain and other organ systems. A number of the forms of the congenital muscular dystrophies are caused by defects in proteins that are thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus.^[4] Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. ...

Duchenne muscular dystrophy (DMD)

Main article: Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s. In the early 1990s, researchers identified the gene for the protein dystrophin which, when absent, causes DMD. The dystrophin gene is the largest known gene in humans. Since the gene is on the X-chromosome, this disorder affects primarily males. Females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently, accounting for a third of cases. The remaining two-thirds of cases are inherited in a recessive pattern. age at onset: two to six years; symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20 years is rare.^[4] Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. ...

Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton within the muscle cells, through the outer membrane of each cell, to the tissue framework that surrounds each cell. Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle.^[4]

Distal muscular dystrophy

Main article: Distal muscular dystrophy

Distal muscular dystrophies' age at onset: 40 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow and not life-threatening.^[12] Distal muscular dystrophy (or distal myopathy) are a group of disorders characterized by onset in the hands or feet. ...

Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of LGMD.^[4]

Emery-Dreifuss muscular dystrophy

Main article: Emery-Dreifuss muscular dystrophy

Age at onset, childhood to early teens. Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progress is slow; sudden death may occur from cardiac problems.^[13] Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. ...

Facioscapulohumeral muscular dystrophy (FSHD)

Main article: Facioscapulohumeral muscular dystrophy

FSHD initially affects muscles of the face, shoulders, and upper arms with progressive weakness. Symptoms usually develop in the teenage years. Some affected individuals become severely disabled. The pattern of inheritance is autosomal dominant, but the underlying genetic defect is poorly understood. Most cases are associated with a deletion near the end of chromosome 4.^[4] Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy that initially affects muscles of the face (facio), scapula (scapulo) and upper arms (humeral). ...

Limb-girdle muscular dystrophy (LGMD)

Main article: Limb-girdle muscular dystrophy

LGMD's all show a similar distribution of muscle weakness, affecting both upper arms and legs. Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenage onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophin-glycoprotein complex.^[4] Limb-girdle muscular distrophy or Erbs muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Beckers muscular dystrophy, and a large number of rarer disorders. ...

Death from LGMD is usually due to cardiopulmonary complications.^{[citation needed]}

Myotonic muscular dystrophy

Main article: Myotonic muscular dystrophy

Myotonic MD's age at onset: 20 to 40 years^{[citation needed]} Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ...

Myotonic muscular dystrophy is the most common adult form of muscular dystrophy. It is marked by myotonia as well as muscle wasting and weakness. Myotonic dystrophy varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, eyes, and gastrointestinal tract. Myotonic dystrophy follows an autosomal dominant pattern of inheritance. Myotonic dystrophy results from the expansion of a short repeat in the DNA sequence (CTG in one gene or CCTG in another gene). In other words, the gene defect is an abnormally long repetition of a three- or four-letter "word" in the genome. While the exact mechanism of action is not known, this molecular change may interfere with the production of important muscle proteins.^[4] Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. ... In biology the genome of an organism is the whole hereditary information of an organism that is encoded in the DNA (or, for some viruses, RNA). ...

Oculopharyngeal muscular dystrophy

Main article: Oculopharyngeal muscular dystrophy

Oculopharyngeal MD's age at onset: 40 to 70 years; symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness, has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins.^[4] Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx. ... In biology the genome of an organism is the whole hereditary information of an organism that is encoded in the DNA (or, for some viruses, RNA). ...

References

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act, Pub. ... National Institutes of Health Building 50 at NIH Clinical Center - Building 10 The National Institutes of Health (NIH) is an agency of the United States Ministry of Health and Human Services and is the primary agency of the United States government responsible for biomedical and health-related research. ... is the 25th day of the year in the Gregorian calendar. ... 2008 (MMVIII) is the current year, a leap year that started on Tuesday of the Anno Domini (or common era), in accordance to the Gregorian calendar. ... NIH can refer to: National Institutes of Health Norwegian School of Sports Sciences: (Norges idrettshøgskole - NIH) Not Invented Here This is a disambiguation page — a navigational aid which lists other pages that might otherwise share the same title. ...

External links

• dbmd at NIH/UW GeneTests
• DuchenneConnect - Muscular dystrophy patient registry
• Dystrophy.com - Extensive information about Muscular Dystrophy - includes symtoms, treatments, diagnosis information and an extensive list of international organizations
• Muscular Dystrophy Association
• National Institute of Neurological Disoders and Stroke
• MedlinePlus Encyclopedia 001190
• Muscular dystrophy, Duchenne and Becker types at NLM Genetics Home Reference
• AT Wiki on Assistivetech.net
• Rehabilitation Engineering Research Center on Wheeled Mobility
• International Ventilator Users Network
• Muscular Dystrophy Campaign
• Muscular Dystrophy Association Europe A European fundraiser.
• Rehabilitation Engineering Research Center on Workplace Accommodations
• The Cooperative International Neuromuscular Research Group
• Quest Official magazine of the Muscular Dystrophy Association
• USA Today - Diseases and Conditions Muscular Dystrophy
• Creatine helps people with muscular dystrophy?
• Myotonic Dystrophy Foundation Working for a cure.
• Muscular Dystrophy Association of Singapore