International Myotonic Dystrophy Organization
 
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MEDICAL INFORMATION
MEDICAL INFORMATION Myotonic Dystrophy Symptoms

People with the disease  may exhibit more or more of the following symptoms which many vary in how severe they are.  Some people will have many of the symptoms others much fewer. There is a generally relationship between the number of repeats of the CTG on Chromosome 19  and the severity of the disease

Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy is present a birth. The baby is born sometimes prematurely. It is a disease that will cause multiple symptoms. The link to the baby is the mother in almost all cases. For instance, out of 118 cases only 2 cases had any incident that the father was the carrier. However, Paternal transmission (by the father) is documented. (Paternal Transmission of Congenital Myotonic Dystrophy J Med Genet 1994;31518-520)  It seems as though the mother somehow causes the disease in the severe form. Some researchers postulate that there does not seem to be a genetic reason for the severe problems that may be caused by the disorder. It may be that the Myotonic Dystrophy in the mother somehow causes the severe congenital form. Click Here for additional information  Deoxycholic Acid has been implicated as a possible vector. (Brooke)

Medical Questions???

The Muscular Dystrophy Association in the USA has a nice Question and Answer section about CMyD Go to Q&A

 
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