Description

A current and correct outlook of the hereditary muscle diseases that weakens the muscles that move the human body, presented in a concise manner.

Very Informative video for kids.

http://www.youtube.com/user/ParentProjectMD

Wednesday, March 9, 2011

Saturday, March 5, 2011

Treatment


There is no known cure for Duchenne muscular dystrophy, although recent stem-cell research is showing promising vectors that may replace damaged muscle tissue. Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life, and include the following:

  • Corticosteroids such as prednisolone and deflazacort increase energy and strength and defer severity of some symptoms.
  • Mild, non-jarring physical activity such as swimming is encouraged. Inactivity (such as bed rest) can worsen the muscle disease.
  • Physical therapy is helpful to maintain muscle strength, flexibility, and function.
  • Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care. Form-fitting removable leg braces that hold the ankle in place during sleep can defer the onset of contractures.
  • Appropriate respiratory support as the disease progresses is important.


Citation:
1)http://www.treat-nmd.eu/patients/DMD/dmd-care/

2)Wilton SD, Lloyd F, Carville K, Fletcher S, Honeyman K, Agrawal S, Kole R (1999). "Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides".Neuromuscul Disord. 9 (5): 330–8. doi:10.1016/S0960-8966(99)00010-3. PMID 10407856.
3) University of Utah Muscular Dystrophy

Diagnosis

Testing:
A muscle biopsy test may be performed. A small sample of muscle tissue is extracted (usually with a scalpel instead of a needle) and a dye is applied that reveals the presence of dystrophin. Complete absence of the protein indicates the condition.
If one or both parents are 'carriers' of a particular condition there is a risk that their unborn child will be affected by that condition. 'Prenatal tests' are carried out during pregnancy, to try to find out if the fetus (unborn child) is affected.

Pedigree

Pedigree of a family with a history of Duchenne muscular dystrophy, which is carried by females (circles) and affects half of a carrier’s male children (squares). The consultand (III-2) wishes to know her risk of having an affected child. Since her grandmother (I-2) was a known carrier, the chances of her mother (II-4) having been a carrier are 1/5. Her own chances of being a carrier are therefore 1/5 × 1/2 = 1/10, and her chances of passing the syndrome to a male child are 1/10 × 1/2 × 1/2 = 1/40. Molecular testing would establish her status with certainty as either a carrier or a noncarrier, and consequently the chance of her male child having the disease would be either 1/2 or 0.
2)muscular dystrophy: inheritance pedigree. Art. Encyclopædia Britannica Online. Web. 6 Mar. 2011.

Inheritance

Women who carry the defective gene can pass an abnormal X on to their sons. Since boys have an X from their mother and a Y from father, there is no second X to make up for the defective gene from the carrier mother.
affected males 2/3 of the time inherited the mutation from the mother while 1/3 of the time the mutation is de novo, or new.
A common abnormality is caused by nondisjunction, the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo.



Citation(text):
1)http://www.emc.maricopa.edu/faculty/farabee/biobk/biobookhumgen.html
2)CDC’s National Center on Birth Defects and Developmental Disabilities (previously listed below as "Duchenne/Becker Muscular Dystrophy, NCBDDD, CDC")

Genetic Basis

Duchenne's Muscular Dystrophy(DMD) is a recessive X linked form of Muscular dystrophy. DMD is the result of a mutation in the gene for coding the production of dystrophin. A protein responsible for maintaining structural stability to the dystroglycan complex a structural component within muscle tissue.
Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene at locus Xp21.

Citation:
1) http://www.forschungsportal.ch/unibe/abstracts/A_62193673.html
2)
Louise V. B. Anderson; Katharine M. D. Bushby (2001). of DMDMuscular Dystrophy: Methods and Protocols (Methods in Molecular Medicine). Totowa, NJ: Humana Press. p. 111. ISBN 0-89603-695-2.

Unique Features



Since the gene is on the X chromosome, this disorder affects primarily males, and females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently, accounting for a third of cases. The remaining two-thirds of cases are inherited in a recessive pattern.

Citation(text):
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a b c d e f g h i j k May 2006 report to Congress on Implementation of the MD CARE Act, as submitted by Department of Health and Human Service's National Institutes of Health Citation(image):http://www.wikipediaondvd.com/nav/art/a/u/9.html