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Famous people with duchenne muscular dystrophy?
Duchenne muscular dystrophy is a rare genetic disorder that primarily affects males. Due to the severity of the condition, there are no famous individuals known to have had Duchenne muscular dystrophy.
Is duchenne muscular dystrophy curable?
Theres no proper known cure for DMD, but its treatment is based on making the signs n symptoms better, however the choice of treatments are steroids Prednisol and Transplantation of Embryonic Stem Cells. I hope this answer helps! All the best! Dr. Malik! ** 7/2/09 ** Link added below showing new treatment for DMD.
How many conditions have been shown to be sex-linked in human?
Several conditions have been shown to be sex-linked in humans. The most well-known example is color blindness, which is more common in males due to its location on the X chromosome. Other sex-linked conditions include hemophilia and Duchenne muscular dystrophy, both of which predominantly affect males.
Who muscular dystrophy affects?
MD is a genetic disorders in which strength and muscle bulk slowly weakens. It is caused by incorrect or missing genetic information. Without this information you can not build or maintain healthy muscles. You slowly lose the ability to walk or even sit up right. This disease can occur at any age in a persons life and there is no known cure.
What disease does Steven Hawking suffer from?
Stephen Hawking suffered from amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. This is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness and loss of motor function. Hawking was diagnosed with ALS at a young age and lived with the disease for several decades.
Famous people with duchenne muscular dystrophy?
Duchenne muscular dystrophy is a rare genetic disorder that primarily affects males. Due to the severity of the condition, there are no famous individuals known to have had Duchenne muscular dystrophy.
Why is pseudohypertrophic muscular dystrophy not to be expected in girls?
Pseudohypertrophic muscular dystrophy, commonly known as Duchenne muscular dystrophy (DMD), is primarily caused by mutations in the dystrophin gene located on the X chromosome. Since boys have only one X chromosome, they are more likely to express the disease when the gene is mutated. In contrast, girls have two X chromosomes, which means they would need mutations in both copies to exhibit the condition; this is much less common. As a result, girls are often carriers of the disorder rather than affected individuals.
What chromosome is muscular dystrophy found on?
The gene is on the short (p) arm of the X chromosome. The gene is known as the dystrophin gene, or simply DMD. It is the longest gene known in the human genome, and codes for the protein dystrophin. According to Aminoff, 2005; the point mutation causing Duchenne Muscular Dystrophy is exhibited on the Xp21 gene, belonging to the above stated chromosome.
What are some diseases to the muscular system?
A disease, also known as pathology, is any abnormal condition. These include injuries like strains, which can range from mild to severe that requires a trip to the ER. Lack of use and malnutrition can lead to atrophy. Spasticity could be a disorder of the nervous system. The disorder known as Duchenne muscular dystrophy is caused by a genetic disorder.
What has the author Jacquelin Duchenne written?
Jacquelin Duchenne is not a known author. However, Duchenne de Boulogne was a French neurologist who conducted pioneering research on the muscular system and diseases. He is particularly known for his work on electrophysiology and facial expression.
What are the two disorders of the muscular system?
There are many disorders that affect the muscular system. Two that may be best known are muscular dystrophy and Lou Gehrig's disease.
How can you get Muscular Dystrophy?
There is no known cure for muscular dystrophy, although Eastern philosophies believe that humans can heal many illnesses and conditions by "balancing" the body.In Muscular Dystrophy, prolonged inactivity (such as bed rest and even sitting for long periods) can worsen the disease. Physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), speech therapy and orthopedic instruments (e.g., wheelchairs and standing frames) may be helpful.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
Is duchenne muscular dystrophy curable?
Theres no proper known cure for DMD, but its treatment is based on making the signs n symptoms better, however the choice of treatments are steroids Prednisol and Transplantation of Embryonic Stem Cells. I hope this answer helps! All the best! Dr. Malik! ** 7/2/09 ** Link added below showing new treatment for DMD.
How do I get the word out to famous celebrities that there is a need for people to be informed and involved about Muscular Dystrophy?
You get it out by posting at a well known site such as myspace.com and maybe facebook.com .
Muscular dystrophy?
DefinitionDuchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness.Alternative NamesPseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne typeCauses, incidence, and risk factorsDuchenne muscular dystrophy is a rapidly-worsening form of muscular dystrophy. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly.Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.Because of the way the disease is inherited, males are more likely to develop symptoms than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.SymptomsSymptoms usually appear before age 6 and may appear as early as infancy. They may include:FatigueMental retardation (possible, but does not worsen over time)Muscle weakness Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the bodyDifficulty with motor skills (running, hopping, jumping)Frequent fallsRapidly worsening weaknessProgressive difficulty walkingAbility to walk may be lost by age 12By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.Signs and testsA complete nervous system (neurological), heart, lung, and muscle exam may show:Abnormal heart muscle (cardiomyopathy)Congestive heart failure or irregular heart rhythm (arrhythmias) -- rareDeformities of the chest and back (scoliosis)Enlarged calf muscles, which are eventually replaced by fat and connective tissue (pseudohypertrophy)Loss of muscle mass (wasting)Muscle contractures in the heels, legsMuscle deformitiesRespiratory disorders, including pneumonia and aspiration of food or fluid into the lungs (in late stages of the disease)Tests may include:Electromyography (EMG)Genetic testsMuscle biopsySerum CPKTreatmentThere is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability to care for yourself.Support GroupsYou can ease the stress of illness by joining a support group where members share common experiences and problems. See muscular dystrophy - support group. The Muscular Dystrophy Association is an excellent source of information on this disease.Expectations (prognosis)Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.ComplicationsCardiomyopathyCongestive heart failure (rare)DeformitiesHeart arrhythmias (rare)Mental impairment (varies, usually minimal)Permanent, progressive disability Decreased mobilityDecreased ability to care for selfPneumonia or other respiratory infectionsRespiratory failureCalling your health care providerCall your health care provider if:Your child has symptoms of Duchenne muscular dystrophySymptoms worsen, or new symptoms develop, particularly fever with cough or breathing difficultiesPreventionGenetic counseling is advised if there is a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.ReferencesKliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa:Saunders Elsevier; 2007:chap 608.
How many conditions have been shown to be sex-linked in human?
Several conditions have been shown to be sex-linked in humans. The most well-known example is color blindness, which is more common in males due to its location on the X chromosome. Other sex-linked conditions include hemophilia and Duchenne muscular dystrophy, both of which predominantly affect males.
Becker muscular dystrophy?
DefinitionBecker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis.Alternative NamesBenign pseudohypertrophic muscular dystrophy; Becker's dystrophyCauses, incidence, and risk factorsBecker muscular dystrophy is very similar to Duchenne muscular dystrophy, except that it gets worse at a much slower rate.The disorder is passed down through families (inherited). Having a family history of the condition raises your risk.Becker muscular dystrophy occurs in approximately 3 - 6 out of every 100,000 males. It is less common than Duchenne muscular dystrophy.SymptomsFemales rarely develop symptoms. Males will develop symptoms if they inherit the defective gene. Symptoms usually appear in boys at about age 12, but may begin later.Muscle weakness of the lower body, including the legs and pelvis area, slowly gets worse, causing:Difficulty walking that gets worse over time; by age 25-30 the person is usually unable to walkFrequent fallsDifficulty with running, hopping, and jumpingLoss of muscle massMuscle weakness in the arms, neck, and other areas is not as severe as in the lower body.Other symptoms may include:Breathing problemsCognitive problems (these do not get worse over time)FatigueLoss of balance and coordinationSigns and testsThe health care provider will do a nervous system (neurological) and muscle examination. A careful medical history is also important, because the pattern of symptom development resembles that of Duchenne's muscular dystrophy. However, Becker muscular dystrophy gets worse much more slowly.An exam may find:Abnormally developed bones, leading to deformities of the chest and back (scoliosis)Abnormality of heart muscle function (cardiomyopathy)Congestive heart failure or irregular heartbeat (arrhythmias) - rareMuscle deformities, including: Contractures of heels and legsAbnormal fat and connective tissue in calf musclesMuscle loss that begins in the legs and pelvis, then moves on to the muscles of the shoulders, neck, arms, and respiratory systemTests that may be done include:CPK blood testElectromyography (EMG) nerve testingMuscle biopsyor genetic blood testTreatmentThere is no known cure for Becker muscular dystrophy. The goal of treatment is to control symptoms to maximize the person's quality of life. Some doctors prescribe steroids to help keep a patient walking for as long as possible.Activity is encouraged. Inactivity (such as bed rest) can make the muscle disease worse. Physical therapy may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchairs may improve mobility and self-care.Genetic counseling may be recommended. Daughters of a man with Becker muscular dystrophy may carry the defective gene and could pass it onto their sons.Support GroupsYou can ease the stress of illness by joining a support group where members share common experiences and problems.See: Muscular dystrophy - support groupExpectations (prognosis)Becker muscular dystrophy leads to slowly worsening disability, although the degree of disability varies. Some men may need a wheelchair, while others may only need to use walking aids such as canes or braces.ComplicationsHeart-related complications such as cardiomyopathyLung failurePneumonia or other respiratoryinfectionsIncreasing and permanent disability, that leads to: Decreased ability to care for selfDecreased mobilityCalling your health care providerCall your health care provider if:Symptoms of Becker muscular dystrophy appearA person with Becker muscular dystrophy develops new symptoms (particularly feverwith cough or breathing difficulties)You are planning to start a family and you or other family members have been diagnosed with Becker muscular dystrophyPreventionGenetic counseling may be advised if there is a family history of Becker muscular dystrophy.ReferencesKliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 608.
