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.
The life expectancy for individuals with muscular dystrophy varies depending on the type of muscular dystrophy they have. Generally, people with Duchenne muscular dystrophy have a life expectancy into their late 20s to early 30s with advances in medical treatment. It is rare for individuals to live beyond their 40s with Duchenne muscular dystrophy. Other forms of muscular dystrophy may have longer life expectancies.
recessive
Duchenne muscular dystrophy is the disorder characterized by a lack of protein dystrophin. This genetic disorder affects muscle function and leads to progressive muscle weakness and degeneration. It primarily affects boys and can result in mobility issues and other complications.
I believe you are referring to muscular dystrophy, this is a inherited degenerative muscular disease, and can only be inherited from parents.There are a number of types of muscular dystrophy but this along with all other inherited diseases are not infections.
This electrical test is used to examine the response of the muscles to stimulation. Decreased response is seen in muscular dystrophy. Other characteristic changes are seen in DM.
As noted, aldolase is elevated in skeletal muscle diseases, such as muscular dystrophies. Duchenne's muscular dystrophy, the most common type of muscular dystrophy, will increase the aldolase level more than any other disease.
Muscular dystrophy is a group of genetic disorders that lead to progressive weakness and loss of muscle mass. This can result in difficulty with movement, breathing, and other physical functions. The severity of symptoms and progression of the disease can vary depending on the specific type of muscular dystrophy.
This is exactly how DMD is transmitted: the defect resides on the X chromosome. Women have 2 X chromosomes, so even if one of the X chromosomes has the DMD trait, the other X chromsome does not and they never get DMD. This is why boys exclusively get Duchenne - they have only one X chromosome. So if a woman carries the Duchenne trait, there is a 50% chance that she will pass DMD to her male offspring. Similarly, there's a 50% chance that her daughters will become carriers like her.
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.
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.
Duchenne muscular dystrophy (DMD) is usually treated with corticosteroids to help slow down muscle degeneration, physical therapy to maintain mobility and function, and medications to manage symptoms such as heart problems. Gene therapy and other new treatments are being developed to address the underlying genetic cause of DMD.