0
What else can I help you with?
Is muscular dystrophy and duchenne muscular dystrophy the same?
Muscular dystrophy is a group of genetic disorders characterized by muscle weakening and wasting, while Duchenne muscular dystrophy (DMD) is a specific type of muscular dystrophy caused by mutations in the dystrophin gene. DMD is the most common and severe form of muscular dystrophy, typically affecting boys and leading to progressive muscle weakness and loss of function.
Does muscular dystrophy require Ventilatory assistance devices?
In some cases, yes. Muscular dystrophy can weaken the muscles required for breathing, leading to respiratory insufficiency. Ventilatory assistance devices may be necessary to help with breathing support in severe cases of muscular dystrophy.
Can you die from MD?
Yes, it is possible to die from MD (muscular dystrophy), although the condition itself is not directly fatal. Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration, which can lead to severe complications like respiratory failure, heart problems, or infections. The severity of these complications varies depending on the specific type of muscular dystrophy and the individual's overall health. Proper medical management can help mitigate risks and improve quality of life.
How is Muscular Dystrophy tested for?
In the 1860s, 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 ten years, 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 males of all ages. Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy.
How does the lyon hypothesis effect duchenne muscular dystrophy?
The Lyon hypothesis states that one X chromosome in females is randomly inactivated during early development, leading to mosaicism. In the case of Duchenne muscular dystrophy, if the X chromosome carrying the mutation is inactivated in a female carrier, she may exhibit less severe symptoms due to the presence of the normal X chromosome. This mosaicism can result in varying degrees of disease severity among female carriers.
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.
When do symptoms of Facioscapulohumeral muscular dystrophy first occur?
most commonly begin in the teens or early twenties, though infant or childhood onset is possible. Symptoms tend to be more severe in those with earlier onset. The disease is named for the regions of the body most severely affected
What symptoms of congential muscular dystrophy begin in infancy?
marked by severe muscle weakness from birth, with infants displaying "floppiness" and very little voluntary movement. Nonetheless, a child with CMD may learn to walk, either with or without some assistive device, and live into young adulthood or beyond
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.
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.
What symptoms are associated with SMA?
SMA stands for Spinal Muscular Atrophy which is an inherited disease which will continually get worse until death. Infants born with SMA have weak muscular tone, feeding and breathing problems. Symptoms in older children include severe respiratory infections, bad speech and worsening posture.
Facioscapulohumeral muscular dystrophy?
DefinitionFacioscapulohumeral muscular dystrophy is progressive muscle weakness and loss of muscle tissue.See also: Muscular dystrophyAlternative NamesLandouzy-Dejerine muscular dystrophyCauses, incidence, and risk factorsFacioscapulohumeral muscular dystrophy affects the upper body, unlike Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body.Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women and may develop in a child if either parent carries the gene for the disorder.Facioscapulohumeral muscular dystrophy affects approximately 5 out of 100,000 people. It affects men and women equally.SymptomsFacioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can affect muscles around the pelvis, hips, and lower leg.Symptoms often do not appear until age 10 - 26, but it is not uncommon for symptoms to appear much later. In some cases, symptoms never develop.Symptoms are usually mild and very slowly become worse. Facial muscle weakness is common, and may include:Eyelid droopingInability to whistleDecreased facial expressionDepressed or angry facial expressionDifficulty pronouncing wordsShoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. The person has difficulty raising the arms because of shoulder and arm muscle weakness.Weakness of the lower legs is possible as the disorder gets worse. The weakness can be severe enough to interfere with walking.Hearing loss and abnormal heart rhythms may occur, but are rare.Signs and testsA physical examination reveals weakness of the facial and shoulder muscles. High blood pressure may be noted but is usually mild. An eye exam may show changes in the blood vessels in the back of the eye.Tests that may be done include:Creatine kinasetest (may be slightly high)Electrocardiogram (EKG)EMG(electromyography)Genetic testing of chromosome 4Hearing testMuscle biopsy(may confirm the diagnosis)TreatmentThere is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve the person's quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle strength.Expectations (prognosis)Disability is often minor. Lifespan is usually not affected.ComplicationsDecreased mobilityDecreased ability to care for selfDeformities of the face and shouldersHearing lossVision loss (rare)Calling your health care providerCall for an appointment with your health care provider if symptoms of this condition develop.Genetic counseling is recommended for couples with a family history of this condition who wish to have children.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.
