Doctor insights on:
What Is Pseudohypertrophic Muscular Dystrophy
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
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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
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
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