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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.
Can muscular dystrophy be detected at birth?
Muscular dystrophy (MD) can sometimes be suspected at birth based on physical examinations, but definitive diagnosis typically requires genetic testing or other assessments that may not be performed immediately. Certain types of MD, like Duchenne muscular dystrophy, can be identified through newborn screening tests that look for specific genetic markers or elevated levels of creatine kinase in the blood. Early detection is crucial for managing the condition and planning appropriate interventions, but it may not be possible to confirm the diagnosis until symptoms develop or through specialized testing later in infancy or early childhood.
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.
When do symptoms of Gaucher disease first appear?
Symptoms of Gaucher disease can start in infancy, childhood, or adulthood.
What has the author Sven Brandt written?
Sven Brandt has written: 'Werdnig-Hoffmann's infantile progressive muscular atrophy' -- subject(s): Atrophy, Muscular, Diseases, In infancy and childhood, Infants, Muscular atrophy
What are symptoms of Type B Niemann-Pick disease?
Type B develops in infancy or childhood with symptoms of mild liver or spleen enlargement and lung problems.
When do symptoms of Tay-Sachs disease first occur?
Symptoms of Tay-Sachs disease develop in infancy and are due to the accumulation of a fatty acid compound in the nervous system.
En do the symptoms of the type 1 form of Pelizaeus-Merzbacher disease appear?
Signs/symptoms in the classical form (type 1) develop in infancy and progress slowly, with death occurring in late adolescence or early adulthood. The connatal form (type 2) also develops in infancy, but progresses more rapidly
What types of medical professionals are involved in treatment of myotonic dystrophy?
Usually, a neurologist and a geneticist are consulted. Depending on the age of onset, the extent of professional help varies. When the age of onset is a birth or infancy, a cardiologist and a pulmonologist will be necessary
What are the symptoms of congenital myasthenia?
The symptoms, which usually begin in infancy or toddlerhood, can include a poor sucking response, drooping eyelids (a condition called ptosis), eyes that appear to wander or float (ophthalmoplegia)
Did Dixie Carter have muscular torticollis?
Dixie Carter, the American actress and producer, is not widely reported to have had muscular torticollis. Muscular torticollis is a condition that causes the neck to twist to one side, often present at birth or developing in infancy. While Carter did face various health challenges later in life, there isn't specific public information linking her to this particular condition.
What are the characteristics of infancy?
there are five characteristics of infancy: 1.Infancy is the shortest of all developmental periods. 2.Infancy is the time of radical adjustments. 3.Infancy is a plateau in development. 4.Infancy is a preview of later development. 5.Infancy is a hazardous period.
