2011 Group Project 10: Difference between revisions

From Embryology
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*Stem Cell transplant
*Stem Cell transplant
*Exon Skipping therapy
*Exon Skipping therapy
<ref>[http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed] PMID: 21674516</ref>
<ref>http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed PMID: 21674516</ref>


== 2 case studies ==
== 2 case studies ==

Revision as of 18:20, 31 August 2011

--Mark Hill 12:44, 5 August 2011 (EST) This belongs on your discussion page.



Your Project Goes Here.


2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip


Introduction: What is Duchenne Muscular Dystrophy? (DMD)

History/timeline

Genetic component

Why is it an abnormality - Symptoms effect

Diagnosis

  • Clinical Diagnosis - in males: progressive symmetrical muscle weakness, symptoms present before age 5, elevated kinase blood levels.
  • Muscle biopsy - a sample of muscle can be taken to look for abnormal levels of dystrophin in the muscle. A special stain is used to detect the dystrophin protein. In a unaffected patient, dystrophin will appear as though there is caulking around the individual muscles cells and it is holding them together like window panes. A patient suffering from DMD will have an absence of the dystrophin.
  • Genetic Testing - this is achieved through a blood sample analysis. Changes in the DMD gene can be detected through various methods. E.g. Large changes in gene (deletion/duplication) or smaller components that spell out the instructions found within the DMD gene (sequencing). However, results may not be conclusive since changes in the genetic code by go undetected by the methods used.

A combination of these components along with family history confirms the diagnosis. [1]

Treatment: Current and Future Prospects

Currently, there is no known cure for DMD. However, there a variety of treatments available which are aimed at managing the symptoms, protecting muscle mass and maximising the quality of life for those who suffer from DMD. Treatments includes:

  • Physical Therapy: in order to maintain muscle strength and function. (Inactivity leads to weakened muscles and can worsen the condition)
  • Orthopedic appliances such as braces and wheelchairs are available to improve mobility
  • Aggressive management of dilated cardiomyopathy with anti-congestive medications
  • The medication prednisone — a corticosteroid — is given to improve the strength and function of individuals with DMD (However there are side affects associated with this medication)

Future Therapies

  • Poloxamer 188
  • Idebenone
  • Gene Therapy
  • Stem Cell transplant
  • Exon Skipping therapy

[2]

2 case studies

Glossary of terms

  • Creatine kinase: an enzyme normally highly concentrated within muscle cells. As muscle cells degenerate, their contents are released into the bloodstream. Therefore elevated levels of creatine kinase can be detected by a blood test and is a measure of muscle damage.

References