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.
fales 3-5 years
In most cases this is diagnosed by age five. In that case the child would need a wheelchair by about age 12. Most likely the child will start to have heart and lung issues by late teens or early twenties. My guess no longer than thirty.
In muscular dystrophy, creatine kinase (CK) levels are typically significantly elevated, often ranging from 5 to 50 times higher than the normal range. Normal CK levels are usually between 30 to 200 U/L, so those with muscular dystrophy may have CK levels exceeding 1,000 U/L. This elevation occurs due to muscle damage and breakdown associated with the condition. However, CK levels can vary based on the specific type of muscular dystrophy and the individual's age and activity level.
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.
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.
Age 17- 34 Good moral standing Good physical condition (i.e. no history of asthma, diabetes, respiratory problems, muscular dystrophy etc)
Some diseases that cause early death include Duchenne muscular dystrophy, Tay-Sachs disease, and Krabbe's disease.
Muscular dystrophy (MD) is a group of genetic disorders that cause progressive weakness and loss of muscle mass. It primarily affects skeletal muscles, which are responsible for movement and posture. MD is caused by mutations in genes that encode for muscle proteins, leading to abnormalities in muscle structure and function. The severity and progression of MD can vary depending on the specific type and the age of onset.
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.
Climbing stairs and rising unaided may become impossible by age nine or ten, and most boys use a wheelchair for mobility by the age of 12. Weakening of the trunk muscles around this age often leads to scoliosis (a side-to-side spine curvature)
In the mild form, persons usually develop cataracts and experience mild muscle tone dysfunction (myotonia). They normally do not experience clinical manifestations until they reach 20 years of age