Doctor insights on:
What Part Of The Body Does Muscular Dystrophy Affect
See below: It is caused by an alteration (mutation) in a gene, called the dmd gene that can be inherited in families in an x-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. ...Read more
Muscular dystrophy includes a number of disorders which are associated primarily with abnormalities of the architecture of the cells, often causing changes in size and function (weakness). These disorders are typically inherited, and recognized early in life, although there are of course exceptions to this. Prognosis is based on the type of MD and expression ...Read more
Mutations in the : dystrophin gene, Xp21.2-p21.1, causes weakness in large, then small, skeletal muscles. Weakness of heart muscle, smooth muscle of GI tract & urinary tracts, Speech Sound Disorder, Intellectual Disability, Specific Learning Disability & behavior problems occur in some boys. Carrier girls may have cardiomyopathy. Specific mutations determine manifestations in boys & carrier girls. See mda.org. ...Read more
Certain muscles are: More prone to md starting in those areas, but as it is progressive, will most likely eventually start causing problems in more and more muscle groups. The progression can be different for all and use, muscle health and types of md can affect which groups show up first and how progressive it is. ...Read more
Several: The screening test is a blood test for CPK. Ultimately, muscle biopsy is diagnostic. ...Read more
Muscle weakness: Dmd is a condition when muscles start to die prematurely. It starts in early childhood, leads to weakness of voluntary muscles such as those of hips, pelvic area, thighs and shoulders. Calves are often enlarged. Eventually it involves all muscles including that of heart and that control breathing. Life span is shortened to less than 30 years. It is a genetic condition primarily in boys. ...Read more
Weakness...: ...More prominent in large muscles than in small ones, progressing to inability to stand up without assistance (see http://en.Wikipedia.Org/wiki/gower_maneuver ); muscles are enlarged early on ("pseudohypertrophy) but wither later. ...Read more
Steroids: Currently the mainstay of therapy for duchenne is still steroids. Steroids slow the progression of the disease but are not a cure. There are many promising therapies being tested, but so far no others available at this time. For more information visit mda.Org or duchenneconnect. ...Read more
See link below: "duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs." - see more at: http://www.Parentprojectmd.Org/site/pageserver?Pagename=understand_about#sthas. ...Read more
They Didn't: Although today's treatment is very limited, our ancestors other than supportive devices, had no real therapy. ...Read more
Abortion: The dystrophin gene can be detected in the fetus. If such testing proves the fetus is male and has the full defect, abortion is an option. There is no way to predict severity of the disorder. There is no way to prevent development of the disorder. Steroid therapy can be started early to try to modify the disorder. ...Read more
X-Linked Reces. MD: Duchenne dystrophy is inherited as an x-linked recessive trait, carried in women. It affects about 1in 3500 male births with no geographic/ethnic variation. About 1/3 of the cases are caused by new mutations, the others are familial. Diagnosis is usually evident from clinical features. The abnormality is in the cytoskeletal protein dystrophin. It is unclear why the lack of dystrophin ->findings. ...Read more
Hereditary: It is inherited because of a defective gene on the x chromosome (female sex chromosome). It is referred to as a "sex-linked recessive" inheritance pattern. Girls get two x chromosomes, and the healthy one overrules the unhealthy gene, preventing girls from contracting the disorder. Boys get an x and a y. If the x has the defective gene, there is no corresponding gene on the y to overrule it. ...Read more
Duchenne muscular-: -Dystrophy or DMD is a genetic disorder. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD is characterized by progressive muscle weakness and degeneration. Symptom onset is usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls. ...Read more
DMD is caused by:
mutation of Xp21.2-p21.1, a large gene that encodes
dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read more
Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more
It is recommended: to begin corticosteroids early to slow the loss of muscle strength, though they may improve muscle strength if started when the child begins to decline. Most boys with DMD are wheelchair-bound by age 10-12 years. In many cases oral steroids prolong ambulation by 1-3 years. Join Muscular Dystrophy Association India, http://www.mdindia.org for information & support. ...Read more
Bad genes: Duchenne type of muscular dystrophy is located on the x chromosome and is found in males. There are specific genetic tests that describe the disorder in detail. Women are carriers, and boys develop symptoms during early childhood. In utero testing is available. There is no cure, but early detection and possible use of steroids with appropriate therapy may modify the course. ...Read more
Start with this link: http://www.genome.gov/19518854Get a more detailed answer ›
Bad disease: This is a group of muscle diseases that all show progressive muscle decline over time. There are a variety of forms, varying from mild to severe. With progressive treatments and care, there are men surviving into their 30's forties and even 50's now. ...Read more
It does not...: ...Appear to have ethnic or geographic predilection. ...Read more
Yes but . . .: Yes, there is no reason that a person with duchenne could not reproduce. However, most people with duchenne elect not to because as they get older their health tends to become more fragile. Also if they have daughters they have a 100% chance that their daughters will carry the disease which means their grandsons would be affected. ...Read more
Young boys: Duchenne muscular dystrophy is a recessive x-linked form of muscular dystrophy, affecting around 1 in 3, 600 boys, which results in muscle degeneration. Approximately 14, 000 americans suffer from dmd. ...Read more
See NIH website:
The national institutes of health (nih) website has excellent information about dmd.
http://www.ninds.nih.gov/disorders/md/md.htm. ...Read more
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