Sir I am sister of duchenne muscular dystrophy which was recognized at age of 4 and he died on his 17 years of age and we have know nothing about carrier mutation now I am married and having a 1 years boy and he started walking on his 11 th month now I am worried that is DMD will continue in my family and please suggest test to know weather I am carrier r not and how I can get rid of these doubts, thanking you sir.

Dr. Rama BhardwajPhysiotherapist4yrs exp

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Hello, duchenne muscular dystrophy is x linked recessive disorder. Which means female can be carrier of the disease but remain unaffected from the disease & can pass on the disease to their son. Unfortunately there is no effective treatment for the condition. As far as diagnostic tests are concerned raised C kinase level in blood indicates Muscular dystrophy. Deficiency of dystrophy protein also indicates DMD. You can also go for muscle biopsy hopefully it clears you doubt. 

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