query: What is Muscular Dystrophy?

title: Muscular dystrophy

text: Muscular dystrophy Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Many people will eventually become unable to walk. Some types are also associated with problems in other organs. The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories or types. The most common type is Duchenne muscular dystrophy (DMD) which typically affects males beginning around the age of four.

title: Muscular dystrophy

text: Coordinating Committee to help focus research efforts through a coherent research strategy. Muscular dystrophy Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Many people will eventually become unable to walk. Some types are also associated with problems in other organs. The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories or types. The most common type is Duchenne muscular

title: Facioscapulohumeral muscular dystrophy

text: of the disease and potential approaches to therapeutic intervention based on that model. A chronology of important milestones in the history of genetic research related to FSHD is included below in the Genetics section. Over the years, FSHD has, at various times, been referred to as: Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as

title: Facioscapulohumeral muscular dystrophy

text: Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as 4/100,000 while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000. Symptoms may develop in early childhood and are usually noticeable in the teenage years, with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal

title: Congenital muscular dystrophy

text: believed that therapy in speech, orthopedic and physical areas, would improve the persons quality of life. While there is currently no cure available, it is important to preserve muscle activity and any available correction of skeletal abnormalities (as scoliosis).Orthopedic procedures, like spinal fusion, maintains/increases the individuals prospect for more physical movement. Congenital muscular dystrophy Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy

title: Congenital muscular dystrophy

text: Congenital muscular dystrophy Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place. Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as "hypotonia", or lack of muscle tone, which can make an infant seem unstable. Children may be slow with

title: Muscular Dystrophy UK

text: Muscular Dystrophy UK Muscular Dystrophy UK is a UK charity focusing on muscular dystrophy and related conditions. They seek to cure or find treatments for muscular dystrophy and other muscle-wasting conditions, and to improve the lives of those affected. The charity was founded in 1959 (then known as the Muscular Dystrophy Group and later as the Muscular Dystrophy Campaign) by Lord Walton of Detchant, to help families and children living with muscular dystrophy, and to raise money to fund research to find the causes of and cures for muscular dystrophy. Since then diagnosis of the different forms of muscular dystrophy

title: Muscular Dystrophy UK

text: Patron of the charity in 1966. Muscular Dystrophy UK Muscular Dystrophy UK is a UK charity focusing on muscular dystrophy and related conditions. They seek to cure or find treatments for muscular dystrophy and other muscle-wasting conditions, and to improve the lives of those affected. The charity was founded in 1959 (then known as the Muscular Dystrophy Group and later as the Muscular Dystrophy Campaign) by Lord Walton of Detchant, to help families and children living with muscular dystrophy, and to raise money to fund research to find the causes of and cures for muscular dystrophy. Since then diagnosis of

title: Muscular dystrophy

text: degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. Outcomes depend on the specific type of disorder. Duchenne muscular dystrophy, which represents about half of all cases of muscular dystrophy, affects about one in 5,000 males at birth. Muscular dystrophy was first described in the 1830s by Charles Bell. The word "dystrophy" is from the Greek "dys", meaning "difficult" and "troph" meaning "nourish". Gene therapy, as a treatment, is in the early stages of study in humans. The signs and symptoms consistent with muscular dystrophy are: These conditions are generally inherited,

title: Becker's muscular dystrophy

text: patients with Becker muscular dystrophy can be impacted by the symptoms of the disorder. But with assistive devices, independence can be maintained. People affected by Becker muscular dystrophy can still maintain active lifestyles. Becker muscular dystrophy is named after the German doctor Peter Emil Becker who published an article about it in 1955. Becker's muscular dystrophy Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is

title: Becker's muscular dystrophy

text: Becker's muscular dystrophy Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the "dystrophin" gene. Some symptoms consistent with Becker muscular dystrophy are: Individuals with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs

title: Duchenne muscular dystrophy

text: to develop therapies for DMD in the future. In 2007, researchers did the world's first clinical (viral-mediated) gene therapy trial for Duchenne MD. Biostrophin is a delivery vector for gene therapy in the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy. Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. This can result in trouble standing up. Most are

title: Muscular Dystrophy Canada

text: Canada's strongest source of fund-raising support. Muscular Dystrophy Canada hosts many events and initiatives to raise funds. The funds raised help provide research and much needed services for people with neuromuscular disorders. Muscular Dystrophy Canada events also raise awareness about these disorders and get entire communities involved. Some of these fundraising efforts are: Muscular Dystrophy Canada Muscular Dystrophy Canada (MDC) () is a non-profit organization that strives to find a cure for neuromuscular disorders. Founded in 1954 as Muscular Dystrophy Association of Canada, volunteers and staff nationwide have helped to provide support and resources to those affected. Since the founding

title: Muscular Dystrophy Canada

text: Neuromuscular Research Partnership (NRP). Currently, there are over 38 chapters and two affiliates across Canada. Muscular Dystrophy Canada was founded in 1954 as the Muscular Dystrophy Association of Canada by Dr. David Green and Arthur Minden along with a number of parents whose children were affected by the disorder. The first President was Arthur Minden. Today Arthur Minden's humanitarian work is remembered by the Arthur Minden Pre-Doctoral Award, set up through Muscular Dystrophy Canada. Fire fighters are Muscular Dystrophy Canada's strongest partners and have been involved with the organization since its inception. Fire departments have continued to be Muscular Dystrophy

title: Muscular Dystrophy Canada

text: Muscular Dystrophy Canada Muscular Dystrophy Canada (MDC) () is a non-profit organization that strives to find a cure for neuromuscular disorders. Founded in 1954 as Muscular Dystrophy Association of Canada, volunteers and staff nationwide have helped to provide support and resources to those affected. Since the founding year, over $64 million has been put towards research via collaborations, fundraising events, and donations. Muscular Dystrophy Canada provides various programs within five areas of service: Education, Information, Advocacy, Support and Equipment. In 2000, Muscular Dystrophy Canada joined with the ALS Society of Canada and the Canadian Institutes of Health Research in the

title: Muscular dystrophy

text: Other types include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. They are due to mutations in genes that are involved in making muscle proteins. This can occur due to either inheriting the defect from one's parents or the mutation occurring during early development. Disorders may be X-linked recessive, autosomal recessive, or autosomal dominant. Diagnosis often involves blood tests and genetic testing. There is no cure for muscular dystrophy. Physical therapy, braces, and corrective surgery may help with some symptoms. Assisted ventilation may be required in those with weakness of breathing muscles. Medications used include steroids to slow muscle

title: Ullrich congenital muscular dystrophy

text: Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows: In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive

title: Muscular Dystrophy Family Foundation

text: Muscular Dystrophy Family Foundation Founded in 1958, the Muscular Dystrophy Family Foundation (MDFF) is a 501(c)(3) non-profit health agency located in Indianapolis, Indiana whose motto is "No Boundaries". The MDFF has no affiliation with the Muscular Dystrophy Association (MDA). Unlike the MDA, MDFF does not have research as part of its mission. Rather, MDFF is concerned with providing adaptive equipment and emotional support to those who suffer from muscular dystrophy, both patients and their families. Direct support services include: annual social events and other equipment and services that enable those with Muscular Dystrophy to enjoy greater mobility and independence. MDFF

title: Muscular dystrophy

text: In addition to mechanical stabilization, dystrophin also regulates calcium levels. Recent studies on the interaction of proteins with missense mutations and its neighbors showed high degree of rigidity associated with central hub proteins involved in protein binding and flexible subnetworks having molecular functions involved with calcium. The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. 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. Other tests that can

title: Muscular dystrophy

text: Musculoskeletal and Skin Diseases, and National Institute of Child Health and Human Development. In 1966, the Muscular Dystrophy Association began its annual "Jerry Lewis MDA Telethon", which has probably done more to raise awareness of muscular dystrophy than any other event or initiative. Disability rights advocates, however, have criticized the telethon for portraying victims of the disease as deserving pity rather than respect. On December 18, 2001, the MD CARE Act was signed into law in the USA; it amends the Public Health Service Act to provide research for the various muscular dystrophies. This law also established the Muscular Dystrophy

title: Becker's muscular dystrophy

text: dystrophy can have children, and all their daughters are carriers, but none of the sons will inherit their father's mutation. Becker muscular dystrophy occurs in approximately 1.5 to 6 in 100,000 male births, making it much less common than Duchenne muscular dystrophy. Symptoms usually appear in men at about ages 8–25, but may sometimes begin later. Genetic counseling may be advisable when potential carriers or patients want to have children. Sons of a man with Becker muscular dystrophy do not develop the disorder, but daughters will be carriers (and some carriers can experience some symptoms of muscular dystrophy), the daughters'

title: Distal muscular dystrophy

text: Distal muscular dystrophy Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do. The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with being able to inherit the mutated gene, distal muscular dystrophy has slow progress therefore the patient may

title: Congenital muscular dystrophy

text: to establish the subtypes, in some literature. One finds that congenital muscular dystrophies can be either autosomal dominant or autosomal recessive in terms of the inheritance pattern, though the latter is much more common Individuals who suffer from congenital muscular dystrophy fall into one of the following "types": The DDx of congenital muscular dystrophy, in an affected individual, is as follows(non-neuromuscular genetic conditions it should be noted, also exist): In terms of the management of congenital muscular dystrophy the American Academy of Neurology recommends that the individuals need to have monitoring of cardiac function, respiratory, and gastrointestinal. Additionally it is

title: Limb-girdle muscular dystrophy

text: Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD has an autosomal pattern of inheritance and currently has no known cure or treatment. The symptoms of an individual with Limb-girdle Muscular Dystrophy (LGMD) generally has great difficulty walking, going both up and down stairs and raising from a chair. The inability to bend over or squat down is also present. Because of these difficulties, falling can occur on a regular basis. Lifting

title: Muscular Dystrophy Association

text: fails to address issues like providing accessible buildings and transportation, and employment opportunities and other civil rights for the disabled. Muscular Dystrophy Association The Muscular Dystrophy Association (MDA) is an American organization, formed 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. Also, MDA had worked closely with comedian, actor, singer and filmmaker Jerry Lewis, thru his work serving as its national chairman from 1956 to 2011 and hosting its live annual telethon each Labor Day

title: Muscular Dystrophy Association

text: Muscular Dystrophy Association The Muscular Dystrophy Association (MDA) is an American organization, formed 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. Also, MDA had worked closely with comedian, actor, singer and filmmaker Jerry Lewis, thru his work serving as its national chairman from 1956 to 2011 and hosting its live annual telethon each Labor Day from 1966 to 2010. The partnership of MDA and Lewis lasted for 60 years. Other stars and entertainers have also

title: Fukuyama congenital muscular dystrophy

text: at some point for the affected individual Fukuyama congenital muscular dystrophy has a poor prognosis. Most children with FCMD reach a maximum mobility at sitting upright and sliding. Due to the compounded effects of continually worsening heart problems, impaired mental development, problems swallowing and additional complications, children with FCMD rarely live through adolescence, the disorder proves fatal by age 20. Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were

title: Fukuyama congenital muscular dystrophy

text: fukutin (the "FCMD" gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier. In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include: Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts.

title: Muscular Dystrophy Family Foundation

text: is a qualified 501(c)(3) non profit tax-exempt charity organization under federal tax guidelines. Muscular Dystrophy Family Foundation Founded in 1958, the Muscular Dystrophy Family Foundation (MDFF) is a 501(c)(3) non-profit health agency located in Indianapolis, Indiana whose motto is "No Boundaries". The MDFF has no affiliation with the Muscular Dystrophy Association (MDA). Unlike the MDA, MDFF does not have research as part of its mission. Rather, MDFF is concerned with providing adaptive equipment and emotional support to those who suffer from muscular dystrophy, both patients and their families. Direct support services include: annual social events and other equipment and services

title: Help Cure Muscular Dystrophy

text: protein would be affected when another protein or a ligand docks with it. Help Cure Muscular Dystrophy Help Cure Muscular Dystrophy is a distributed computing project that runs on the BOINC platform. It is a joint effort of the French muscular dystrophy charity, L'Association française contre les myopathies; and L'Institut de biologie moléculaire et cellulaire (Molecular and Cellular Biology Institute). Help Cure Muscular Dystrophy studies the function of various proteins that are produced by the two hundred genes known to be involved in the production of neuromuscular proteins by modelling the protein-protein interactions of the forty thousand relevant proteins that

title: Help Cure Muscular Dystrophy

text: Help Cure Muscular Dystrophy Help Cure Muscular Dystrophy is a distributed computing project that runs on the BOINC platform. It is a joint effort of the French muscular dystrophy charity, L'Association française contre les myopathies; and L'Institut de biologie moléculaire et cellulaire (Molecular and Cellular Biology Institute). Help Cure Muscular Dystrophy studies the function of various proteins that are produced by the two hundred genes known to be involved in the production of neuromuscular proteins by modelling the protein-protein interactions of the forty thousand relevant proteins that are listed in the Protein Data Bank. More specifically, it models how a

title: Oculopharyngeal muscular dystrophy

text: Oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene. Autosomal dominant inheritance is the most common form of inheritance. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that

title: Becker's muscular dystrophy

text: sons may develop the disorder. In terms of the diagnosis of Becker muscular dystrophy symptom development resembles that of Duchenne muscular dystrophy. A physical exam indicates lack of pectoral and upper arm muscles, especially when the disease is unnoticed through the early teen years. Muscle wasting begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Among the exams/tests performed are: There is no known cure for Becker muscular dystrophy yet. Treatment is aimed at control of symptoms to maximize the quality of life which can be

title: Oculopharyngeal muscular dystrophy

text: a wheelchair. As with all surgical procedures, they come with many risk factors. As the dysphagia becomes more severe, patients become malnourished, lose significant weight, become dehydrated and suffer from repeated incidents of aspiration pneumonia. These last two are often the cause of death. The disease is found across 5 continents (30 countries) and is frequently seen in French Canadians, with a prevalence 1:1000. OPMD affects males and females equally, and affected individuals have been found in Europe (France), Jewish Ashkenazi, and Spanish Americans. Oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms

title: Emery–Dreifuss muscular dystrophy

text: Emery–Dreifuss muscular dystrophy Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Dreifuss. Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy. Among other signs/symptoms of Emery–Dreifuss muscular dystrophy are: Mutations in the "EMD", "LMNA", and several other genes cause the various types of Emery–Dreifuss muscular dystrophy. The "EMD" and "LMNA" genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds

title: Oculopharyngeal muscular dystrophy

text: involvement with significant reduction of myelinated fibers In homozygous cases, this muscular dystrophy is severe and starts earlier in the affected individuals life. The genetics of this type of muscular dystrophy revolve around the PABPN1 gene. This gene suffers mutations that cause the PABPN1 protein to have extra alanine (amino acids), this manifests itself physically in the symptoms of this MD. The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly(A) RNA. In most cases oculopharyngeal muscular dystrophy is inherited via autosomal dominance. The alleles, which are a variant form of a gene

title: Duchenne muscular dystrophy

text: Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness usually begins around the age of four in boys and worsens quickly. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder

title: Muscular Dystrophy Association

text: supported the Muscular Dystrophy Association over the years, including Wayne Newton, Frank Sinatra, The Jackson 5, Sammy Davis, Jr., Don Rickles, Ed McMahon, Milton Berle, Norm Crosby, Don Francisco, Johnny Carson, Tony Orlando, Aretha Franklin, Maureen McGovern and Diana Ross. MDA's national office is in Chicago, Illinois. The organization was founded in 1950 by a group with personal connections to muscular dystrophy. Originally known as the Muscular Dystrophy Associations of America, it was renamed to its present name in the 1970s. Each year (sometimes for multiple-year stretches), a child affected by a muscle disease is chosen to be the MDA's

title: Congenital muscular dystrophy

text: between 2.6-4.5 in 10,000 according to Reed, 2009. MDCIA, for example is due to a mutation in the LAMA-2 gene and is involved with the 6q2 chromosome. In terms of the mechanism of congenital muscular dystrophy, one finds that though there are many types of CMD the glycosylation of α-dystroglycan and alterations in those genes that are involved are an important part of this conditions pathophysiology For the diagnosis of congenital muscular dystrophy, the following tests/exams are done: The subtypes of congenital muscular dystrophy have been established through variations in multiple genes. Phenotype, as well as, genotype classifications are used

title: LMNA-related congenital muscular dystrophy

text: LMNA-related congenital muscular dystrophy Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthetizes lamins A and C. This illness implies, like other muscular dystrophies, muscle weakness, motor difficulties and lack of control in the movement of the head, respiratory failure and cardiac abnormalities. It is an autosomal dominant inherited disease that affects both male and female. It is dominantly inherited because the abnormal gene would dominate

title: Limb-girdle muscular dystrophy

text: are lacking. The review goes on to state that animal models for LGMD2 have been used to analyse therapeutic medications. Also adding that while prednisone has been used and has had positive effects on affected LGMD2 individuals there is still no evidence of its effectiveness in trials that are placebo-controlled Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD has an autosomal pattern of inheritance and currently has no known cure or

title: Fukuyama congenital muscular dystrophy

text: Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. Yukio Fukuyama. FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein

text: no cure for CMD. Symptoms are managed for each individual and may involve the coordination of several healthcare specialists. There is an open prognosis because this disease has an unknown evolution. The cure of the disease could be found through some advanced therapies such as CRISPR/Cas9. LMNA-related congenital muscular dystrophy Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthetizes lamins A and C. This illness implies,

title: Distal muscular dystrophy

text: CK levels, as well as muscle biopsy of the individual suspected of being afflicted with this condition Distal muscular dystrophy Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do. The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with

title: Limb-girdle muscular dystrophy

text: is an inherited disorder, though it may be inherited as a dominant or recessive genetic defect. The result of the defect is that the muscles cannot properly form certain proteins needed for normal muscle function. Several different proteins can be affected, and the specific protein that is absent or defective identifies the specific type of muscular dystrophy. Among the proteins affected in LGMD are α, β, γ and δ sarcoglycans. The sarcoglycanopathies could be possibly amenable to gene therapy. The diagnosis of limb-girdle muscular dystrophy can be done via muscle biopsy, which will show the presence of muscular dystrophy, and

title: Muscular dystrophy

text: be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy. Quality of life can be measured using specific questionnaires. Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), speech therapy, and respiratory therapy may be helpful. Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone. Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some

title: Emery–Dreifuss muscular dystrophy

text: therefore cardiac defibrillators may be needed at some point by the affected individual. Other possible forms of management and treatment are the following: Emery–Dreifuss muscular dystrophy Emery–Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as skeletal muscles and also affects the cardiac muscle, it is named after Alan Eglin H. Emery and Fritz E. Dreifuss. Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy. Among other signs/symptoms of Emery–Dreifuss muscular dystrophy are: Mutations in the "EMD", "LMNA", and several other genes cause the various types

title: Ullrich congenital muscular dystrophy

text: in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein. In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are: This includes Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching. Respiratory support may be needed at some point by the affected individual. Though cardiac complications

title: Ullrich congenital muscular dystrophy

text: that cyclosporine A might be of benefit to individuals with this CMD type. According to a review by Bernardi, et al., cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to rotenone. Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy.It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. The presentation of

title: Muscular dystrophy

text: cases. The cardiac problems that occur with EDMD 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. Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques. Occupational therapy may implement changes to a person's environment, both at home or work, to increase

title: Duchenne muscular dystrophy

text: dystrophin gave rise to the notion that shorter dystrophin can still be therapeutically beneficial. Concurrently, Kole "et al." had modified splicing by targeting pre-mRNA with antisense oligonucleotides (AONs). Kole demonstrated success using splice-targeted AONs to correct missplicing in cells removed from beta-thalassemia patients Wilton's group tested exon skipping for muscular dystrophy. Duchenne muscular dystrophy is caused by a malfunction in translation known as exon skipping. Translation is a three step process that begins with an mRNA template and finishes with a protein, when all steps go correctly. As an mRNA template is being fed through the ribosome, the mRNA is

title: Duchenne muscular dystrophy

text: protein to be produced. It is also known as nonsense suppression therapy. Two kinds of antisense oligos, 2'-O-methyl phosphorothioate oligos (like drisapersen) and Morpholino oligos (like eteplirsen), have tentative evidence of benefit and are being studied. Eteplirsen might be of benefit in 1.5% of cases. People with Becker's muscular dystrophy, which is milder than DMD, have a form of dystrophin which is functional even though it is shorter than normal dystrophin. In 1990 England "et al." noticed that a patient with mild Becker muscular dystrophy was lacking 46% of his coding region for dystrophin. This functional, yet truncated, form of

title: Emery–Dreifuss muscular dystrophy

text: the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes. The diagnosis of Emery–Dreifuss muscular dystrophy can be established via single-gene testing or genomic testing, and clinically diagnosed via the following exams/methods: The types of Emery–Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The treatment (management) of Emery–Dreifuss muscular dystrophy can be done via several methods, however secondary complications should be consider in terms of the progression of EDMD,

title: Becker's muscular dystrophy

text: highly variable—much more so than Duchenne muscular dystrophy. There is also a form that may be considered as an intermediate between Duchenne and Becker MD (mild DMD or severe BMD). Severity of the disease may be indicated by age of patient at the onset of the disease. One study showed that there may be two distinct patterns of progression in Becker muscular dystrophy. Onset at around age 7 to 8 years of age shows more cardiac involvement and trouble climbing stairs by age 20, if onset is around age 12, there is less cardiac involvement. The quality of life for

title: Nutritional muscular dystrophy

text: Nutritional muscular dystrophy Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium and vitamin E in dietary intake. Soils that contains low levels of selenium produce forages and grains that are deficient in selenium. Similarly, if the forage is of low quality or is not stored properly it may be deficient in vitamin E. If an animal consumes this type of diet without additional supplementation they become susceptible to this disease. This condition often affects young ruminants, such as calves and lambs. Selenium and vitamin E are antioxidants therefore, deficiencies of

title: Becker's muscular dystrophy

text: measured by specific questionnaires. Activity is encouraged. Inactivity (such as bed rest) or sitting down for too long can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchairs may improve mobility and self-care. Immunosuppressant steroids have been known to help slow the progression of Becker muscular dystrophy. The drug prednisone contributes to an increased production of the protein utrophin which closely resembles dystrophin, the protein that is defective in BMD. The cardiac problems that occur with EDMD and myotonic muscular dystrophy may require a pacemaker. The investigational drug Debio-025

title: Congenital muscular dystrophy

text: their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the more rarer forms of CMD can result in significant learning disabilities. The genetics of congenital muscular dystrophy are autosomal recessive which means two copies of an abnormal gene must be present for the disease or trait to happen. In the case of collagen VI-deficient, it is autosomal dominant, which means a child could inherit the disease from only one copy of a gene present in only one parent. The prevalence for congenital muscular dystrophy seems to be

title: Muscular Dystrophy Association

text: some of the diseases in MDA's program, the availability of a newborn screening program at the time of treatment availability presents the best opportunity for impacting optimal and potential lifesaving treatment outcomes." The MDA supported the Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (H.R. 594; 113th Congress), a bill that would amend the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH). MDA argued that "a great deal of work still needs to be done, and increased federal support is needed to ensure that researchers

title: Duchenne muscular dystrophy

text: binding with nucleotides and producing a full length functional protein that will be released into the cell for the job it is meant for. These nucleotides are matched with the mRNA based on the special three code letters known as codons, which tells what specific amino acid or stop signal during the production of a protein. During Duchenne muscular dystrophy what happens is instead of a regular codons being fed through then a stop codon coming and clipping off a full length protein, instead, a nonsense mutation occurs. This premature termination of codon mutations, occur in an estimated 10-15% of

title: Oculopharyngeal muscular dystrophy

text: two copies of the mutated gene need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following: Though the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had

title: Fukuyama congenital muscular dystrophy

text: creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. The available genetic test include: Currently this sub-type of muscular dystrophy has no cure and no "definitive" treatment exists. Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy. Stretching and physical therapy can increase mobility. Treatment also includes correcting skeletal abnormalities through orthopedic surgery and other orthopedic techniques. Antiepileptic medication is administered to help prevent seizures. ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed

title: Limb-girdle muscular dystrophy

text: genetic testing is used to determine which type of muscular dystrophy a patient has. Immunohistochemical dystrophin tests can indicate a decrease in dystrophin detected in sarcoglycanopathies. In terms of sarcoglycan deficiency there can be variance (if α-sarcoglycan and γ-sarcoglycan are not present then there's a mutation in LGMD2D). The 2014 "Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies" indicates that individuals suspected of having the inherited disorder should have genetic testing. Other tests/analysis are: The "LGMD1" family is autosomal dominant, and the "LGMD2" family is autosomal recessive. Limb-girdle muscular dystrophy is explained in terms of gene, locus,

title: Limb-girdle muscular dystrophy

text: individuals have near-normal muscle strength and function. LGMD isn't typically a fatal disease, though it may eventually weaken the heart and respiratory muscles, leading to illness or death due to secondary disorders. The frequency of limb-girdle muscular dystrophy ranges from 1 in 14,500 (in some instances 1 in 123,000) There is a variety of research under way targeted at various forms of limb-girdle muscular dystrophy. Among the methods thought to hold promise for treatment include gene transfer therapy, which works by inserting in cells of defective genes with a healthy gene. According to a review by Bengtsson et al. some

title: Limb-girdle muscular dystrophy

text: OMIM and type as follows: There are few studies corroborating the effectiveness of exercise for limb-girdle muscular dystrophy. However studies have shown that exercise can, in fact, damage muscles permanently due to intense muscle contraction. Physical therapy may be required to maintain as much muscle strength and joint flexibility as possible. Calipers may be used to maintain mobility and quality of life. Careful attention to lung and heart health is required, corticosteroids in LGMD 2C-F individuals, shows some improvement Additionally individuals can follow "management" that follows: In terms of the prognosis of limb-girdle muscular dystrophy in its mildest form, affected

title: Muscular Dystrophy Community Assistance Research and Education Amendments of 2001

text: all muscular dystrophy populations. Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 ("MD CARE Act", ) amended the Public Health Service Act to provide for research with respect to various forms of muscular dystrophy, including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery–Dreifuss muscular dystrophies. The act established a Federal Advisory Committee called the Muscular Dystrophy Coordinating Committee (MDCC), which is composed of no more than 15 members to coordinate the activities across the National Institutes and with other Federal health programs and activities

title: Muscular dystrophy

text: and the different muscular dystrophies follow various inheritance patterns. Muscular dystrophy can be inherited by individuals as an X-linked disorder, a recessive or dominant disorder. Furthermore, it can be a spontaneous mutation which means errors in the replication of DNA and spontaneous lesions. Spontaneous lesions are due to natural damage to DNA, where the most common are depurination and deamination. Dystrophin protein is found in muscle fibre membrane; its helical nature allows it to act like a spring or shock absorber. Dystrophin links actin in the cytoskeleton and dystroglycans of the muscle cell plasma membrane, known as the sarcolemma (extracellular).

text: Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 ("MD CARE Act", ) amended the Public Health Service Act to provide for research with respect to various forms of muscular dystrophy, including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery–Dreifuss muscular dystrophies. The act established a Federal Advisory Committee called the Muscular Dystrophy Coordinating Committee (MDCC), which is composed of no more than 15 members to coordinate the activities across the National Institutes and with other Federal health programs and activities relating to the various

text: pass the Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (H.R. 594; 113th Congress), a bill that would amend the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH). The bill would amend the Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 to authorize the Secretary of Health and Human Services to: (1) update and disseminate widely existing Duchenne-Becker muscular dystrophy care considerations for pediatric patients, and (2) develop and disseminate widely Duchenne-Becker muscular dystrophy considerations for adult patients and acute care considerations for

title: Becker's muscular dystrophy

text: in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body. Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy) as the legs become less used (with use of wheelchair). Possible complications associated with muscular dystrophies (MD) are cardiac arrhythmias. Becker muscular dystrophy (BMD) also demonstrates the following: The disorder is inherited with an X-linked recessive inheritance pattern. The gene is located on the X

title: Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013

text: to various forms of muscular dystrophy, including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery–Dreifuss muscular dystrophies. According to the Muscular Dystrophy Association, "since 2001, there have been 67 clinical trials of drugs or therapies for muscular dystrophy, and currently 37 clinical trials are under way." "This summary is based largely on the summary provided by the Congressional Research Service, a public domain source." The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 would amend the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of

title: Physical therapy for Duchenne muscular dystrophy

text: therapeutic relationship, it is important to coordinate with family members, friends and other social resources to ensure that a person with DMD has both physical and emotional support. An occupational therapist can act as an advocate for his or her client and can educate those around him or her regarding information about the illness, supports, resources and other concerns. An occupational therapist can also provide his or her client with the tools to learn how to provide his or her own advocacy. Physical therapy for Duchenne muscular dystrophy The goal of physical and occupational therapy in Duchenne muscular dystrophy is

text: Physical therapy for Duchenne muscular dystrophy The goal of physical and occupational therapy in Duchenne muscular dystrophy is to obtain a clear understanding of the individual, of their social circumstances and of their environment in order to develop a treatment plan that will improve their quality of life. Individuals with DMD often experience difficulties in areas of self-care, productivity and leisure. This is related to the effects of the disorder, such as decreased mobility; decreased strength and postural stability; progressive deterioration of upper-limb function; and contractures. Occupational and physical therapists address an individual's limitations using meaningful occupations and by grading

text: for congenital muscular dystrophy (CMD), overlapping syndromes related to mutation have also been reported. It is located on the long arm of the chromosome 1 (1q21-q22) and encodes the proteins lamin A and lamin C. These are structural proteins of intermediate filaments that provide stability and strength to the cells. They play an important role in the organization of chromatin and nuclear membrane. Unlike most muscular dystrophies, lamin A/C CMD does not present a breakdown of muscular fibres caused by muscle degeneration. The only certain way to diagnose this disease is with molecular techniques like LMNA gene sequencing. There is

text: and (2) develop and disseminate widely Duchenne-Becker muscular dystrophy considerations for adult patients and acute care considerations for all muscular dystrophy populations. Directs that such care considerations should build upon existing efforts currently underway for specified forms of muscular dystrophy and incorporate strategies specifically responding to the findings of the national transitions survey of minority, young adult, and adult communities of muscular dystrophy patients. "This summary is based largely on the summary provided by the Congressional Budget Office, as ordered reported by the House Committee on Energy and Commerce on July 15, 2014. This is a public domain source." H.R.

text: Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (; ) is a United States public law that amends the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH). The bill was introduced into the United States House of Representatives during the 113th United States Congress. The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 ("MD CARE Act", ) amended the Public Health Service Act to provide for research with respect

title: Muscular dystrophy

text: 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 the most common and severe form of the disease, which now carries his name—Duchenne MD. WHO International conducted trials on optimum steroid regimen for MD, in the UK in 2012. In terms of research within the United States, the primary federally funded organizations that focus on muscular dystrophy research, including gene therapy and regenerative medicine, are the National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and

title: Duchenne muscular dystrophy

text: used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. DMD affects about one in 5,000 males at birth. It is the most common type of muscular dystrophy. The average life expectancy is 26; however, with excellent care, some may live into their 30s or 40s. Gene therapy, as a treatment, is in the early stages of study in humans. The main symptom of DMD, a progressive neuromuscular disorder, is muscle weakness associated with muscle wasting with the voluntary muscles being first affected, especially those of

title: Becker's muscular dystrophy

text: is a known inhibitor of the protein cyclophilin D, which regulates the swelling of mitochondria in response to cellular injury. Researchers decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease’s muscle-damaging characteristics. According to a review by Bushby, et al. if a primary protein is not functioning properly then maybe another protein could take its place by augmenting it. Upregulation of compensatory proteins has been done in models of transgenic mice. The progression of Becker muscular dystrophy is

title: Duchenne muscular dystrophy

text: genetically based disorders such as Duchenne muscular dystrophy. A nonsense mutation is an incident that occurs when a correct codon is change to a chain terminating codon, which in-turn causes for the protein to be prematurely released and therefore becomes a non-functional protein. Skipping an exon is like skipping a segment of a DNA or RNA containing information coding for a protein or peptide sequence. By skipping this critical information needed to produce a full, functional protein, this results in an unfinished protein that lacks in length causing defective and non-functional protein. Researchers are working on a gene editing method

title: Duchenne muscular dystrophy

text: to correct a mutation that leads to Duchenne muscular dystrophy (DMD). Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in the dystrophin gene in DNA, allowing the body’s DNA repair mechanisms to replace it with a normal copy of the gene. The benefit of this over other gene therapy techniques is that it can permanently correct the “defect” in a gene rather than just transiently adding a “functional” one. Genome editing through the CRISPR/Cas9 system is not currently feasible in humans. However, it may be possible, through advancements in technology, to use this technique

title: Duchenne muscular dystrophy

text: less than 30 percent of normal, a volume ventilator/respirator may also be needed during the day for more assistance. The person gradually will increase the amount of time using the ventilator/respirator during the day as needed. However, there are also people with the disease in their 20s who have no need for a ventilator. Duchenne muscular dystrophy is a rare progressive disease which eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Life expectancy is estimated to be around 25-26, but this varies. With excellent medical care males are often living into their 30s.

title: Duchenne muscular dystrophy

text: (amount) of air to the person with each breath, are valuable in the treatment of people with muscular dystrophy-related respiratory problems. The ventilator may require an invasive endotracheal or tracheotomy tube through which air is directly delivered, but for some people, noninvasive delivery through a face mask or mouthpiece is sufficient. Positive airway pressure machines, particularly bilevel ones, are sometimes used in this latter way. The respiratory equipment may easily fit on a ventilator tray on the bottom or back of a power wheelchair with an external battery for portability. Ventilator treatment may start in the mid- to late teens

text: (1) health economic studies to demonstrate the cost-effectiveness of providing independent living resources and support to patients with various forms of muscular dystrophy, (2) studies to determine optimal clinical care interventions for adults with various forms of muscular dystrophy, and (3) the development of clinical interventions to improve the health of adults with various forms of muscular dystrophy. The bill would require the MDCC to develop a plan to expedite the evaluation and approval of emerging therapies and personalized medicines that have the potential to decrease fatal disease progression across the various forms of muscular dystrophy. The bill would require

title: Facioscapulohumeral muscular dystrophy

text: needed for FSHD to be present and that the remaining versions of the DUX4 become more active (open for transcription) because the DNA at the tip of chromosome 4 is less tightly coiled as a result of the deletions. In 1991 the FSH Society was founded by two individuals with FSHD, Daniel Perez and Stephen Jacobsen. The FSH Society raised funding to provide seed grants for FSHD research, advocated for the field to standardize the name of the disease as "facioscapulohumeral muscular dystrophy" and "FSHD", and co-wrote the MD-CARE Act, passed into law in 2001, which for the first time

title: Facioscapulohumeral muscular dystrophy

text: sized D4Z4 region on a permissive 4qA allele. This establishes a genetic/mechanistic intersection of FSHD1 and FSHD2. On 19 August 2010, a paper entitled A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy was published in Science showing that the candidate gene DUX4 undergoes a "toxic gain of function" as a result of single nucleotide polymorphisms in the region distal to the last D4Z4 repeat. According to the research, this leads to a "canonical polyadenylation signal for transcripts derived from DUX4". This is the first time in the history of genetics in which "junk" DNA has been shown to reanimate and

title: Duchenne muscular dystrophy

text: the required supports for later-life care has shown greater longevity for people with DMD. Curiously, in the mdx mouse model of Duchenne muscular dystrophy, the lack of dystrophin is associated with increased calcium levels and skeletal muscle myonecrosis. The intrinsic laryngeal muscles (ILMs) are protected and do not undergo myonecrosis. ILMs have a calcium regulation system profile suggestive of a better ability to handle calcium changes in comparison to other muscles, and this may provide a mechanistic insight for their unique pathophysiological properties. The ILM may facilitate the development of novel strategies for the prevention and treatment of muscle wasting

text: the United States Secretary of Health and Human Services (HHS), in carrying out epidemiological activities regarding Duchenne and other forms of muscular dystrophies, to ensure that data from different racial and ethnic populations is captured and made publicly available to investigators conducting public or private research on muscular dystrophy. Directs the Secretary to foster ongoing engagement and collaboration between the surveillance program and the research centers. The bill would amend the Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 to authorize the Secretary to: (1) update and disseminate widely existing Duchenne-Becker muscular dystrophy care considerations for pediatric patients,

title: Oculopharyngeal muscular dystrophy

text: involved in this form of MD are: PABPN1, (GCG)n EXPANSION, (GCG)8-13, PABPN1, (GCG)n EXPANSION, (GCG)7 and PABPN1, GLY12ALA. The diagnosis of oculopharyngeal muscular dystrophy can be done via two methods, a muscle biopsy or a blood draw with genetic testing for GCG trinucleotide expansions in the PABPN1 gene. The genetic blood testing is more common.Additionally, a distinction between OPMD and myasthenia gravis or mitochondrial myopathy must be made, in regards to the differential diagnosis of this condition. Currently no cure or specific treatment exists to eliminate the symptoms or stop the disease progression. A consistent diet planned with the help

title: Muscular Dystrophy Association

text: "National Goodwill Ambassador", which, until the 1980s, were referred to as "poster children". In 1952, the MDA inaugurated Michael Danna as its first Poster Child. One of the most well-known ambassadors was Mattie Stepanek, the National Goodwill Ambassador from 2002 until his death in 2004, notable for his best-selling "Heartsongs" series of poetry books, and his appearances on "The Oprah Winfrey Show" and "Good Morning America". More recent National Goodwill Ambassadors have been 12-year-old Bryson Foster (2012-2013) of Concord, N.C. who is affected by duchenne muscular dystrophy and 9-year-old Reagan Imhoff of New Berlin, Wisconsin. Since 1954, MDA has partnered

text: forms of muscular dystrophy. By law the committee's composition is 2/3s governmental agencies and 1/3 public membership, including a broad cross section of persons affected with muscular dystrophies including parents or legal guardians, affected individuals, researchers, and clinicians. Public members appointed serve for a term of 3 years, and may serve for an unlimited number of terms if reappointed. The MD-CARE Act directed the Committee to develop a plan for conducting and supporting research and education on muscular dystrophy through the national research institutes, and to submit this plan to Congress within the first year of the establishment of the

text: we believe are getting us closer to effective therapies and treatments." The Muscular Dystrophy Association supported the bill, listing the accomplishments since the first law was enacted, but arguing that "a great deal of work still needs to be done, and increased federal support is needed to ensure that researchers can continue making progress toward finding a cure." Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (; ) is a United States public law that amends the Public Health Service Act

title: Muscular Dystrophy Association

text: host and chairman, due to circumstances not revealed. However, in 2016, one year before his death, Lewis broke a five-year silence in a video endorsing MDA's redesigned web site and brand, declaring that the work to end muscular dystrophy be continued. Additionally, Lewis' support has been so ironclad over the years that children and adults assisted by MDA are referred to as "Jerry's Kids". From 2012 to 2014, the show was known as the "MDA Show of Strength". In 2014, the organization announced it was discontinuing the show. Every summer, for one week, thousands of children from across the country

title: Limb-girdle muscular dystrophy

text: symmetric, proximal, and slowly progressive. In most cases, pain is not present with LGMD, and mental function is not affected. LGMD can begin in childhood, adolescence, young adulthood or even later, the age of onset is usually between 10 and 30. Both genders are affected equally, when limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.There is no sensory neuropathy or autonomic or visceral dysfunction at presentation. In terms of the genetics LGMD

title: Fukuyama congenital muscular dystrophy

text: FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. Children also experience delayed myelination in the brain. The cause of Fukuyama congenital muscular dystrophy is rooted in the FKTN gene, located at human chromosome 9q31, codes for the protein fukutin. Mutations in this gene, and therefore the fukutin protein, are the cause of FCMD. The disease is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two

title: Distal muscular dystrophy

text: not know that they have it until they are in their late 40’s or 50’s. There are eight known types of distal muscular dystrophy. They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers–Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old. In terms of diagnosis, Vocal cord and pharyngeal distal myopathy should be assessed via serum

title: Ullrich congenital muscular dystrophy

text: are not a concern in this type of CMD, in regards to respiratory issues ventilation via a tracheostomy is a possibility in some cases. The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. Surgery, at some point, might be an option for scoliosis. Scoliosis which is a sideways curve of the persons vertebrate, is determined by a variety of factors, including the degree (mild or severe), in which case if possible a brace might be used by the individual In terms of possible research for Ullrich congenital muscular dystrophy one source indicates

text: MDCC. The MDCC has conducted two stages of planning. The first stage led to the Muscular Dystrophy Research and Education Plan for NIH, which was submitted to Congress in August 2004. This formed the basis for a subsequent, more intensive planning process that produced the January 2006 MDCC Action Plan for the Muscular Dystrophies. The Action Plan contains specific research objectives that are appropriate to the missions of all MDCC member agencies and organizations and thus serves as a central focus for coordination of research in muscular dystrophy. On July 28, 2014, the United States House of Representatives voted to

title: Fukuyama congenital muscular dystrophy

text: of the destabilized muscle fibers over time causes them to break down and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in cerebral fukutin causes neuronal cells to continue moving beyond their intended destination. Additionally, oxidative stress has some effect on astrocytes (as well as, neurons) when fukutin is subdued In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum

text: Health (NIH). The bill would expand the range of forms of muscular dystrophy included within the program. Requires the research conducted through Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers to include cardiac and pulmonary function research. Requires the Director of NIH to ensure the sharing of data between such centers. The bill would revise the composition of the Muscular Dystrophy Coordinating Committee (MDCC) to include the Social Security Administration and the United States Administration for Community Living. The bill would require the MDCC to meet at least two times per year. Requires the MDCC Action Plan to provide for:

text: 594 would amend the Public Health Service Act to reauthorize surveillance, research, and education activities relating to muscular dystrophy. The bill would expand the portfolios of the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) to include additional forms of muscular dystrophy. It also would direct CDC to capture more representative data regarding muscular dystrophy across populations. The Congressional Budget Office (CBO) estimates that implementing H.R. 594 would cost $323 million over the 2015-2019 period, assuming appropriation of the necessary amounts. Pay-as-you-go procedures do not apply to this legislation because it would not affect