Friday, November 20, 2009

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy or CMD is used to descibed muscular dystrohy that is present at birth. Infants with such disease often appear "floppy" with little muscle tone and contractures.

Certain forms of CMD do not affect the lifespan of the individual. It is generally used to describe a number of autosomal recessive diseases that are present at birth and can slowly progress and worsen through life. While the weakening of the muscle could stabilise over time, the complications from it usually worsens over time.

CMD can be diagnosed through the following methods:

1. Muscle biopsy
2. Serum creatine kinase concentration
3. Immunostaining of muscle
4. Brain MRI
5. Genetic Testing

As CMD is basically caused by genetics where one inherits the genes from the parents. As the gene is recessive, the parents could have just been carriers and not sufferers of the disease. A wide range of genetic counselling is also available to tell parents of children who suffer from CMD how likely it is that another child would suffer from it.

There is currently no cure for CMD and the treatment available are limited to physical and occupational therapy.

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