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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Dear Doctor: I am writing for your advice on behalf

Dear Doctor:

I am writing for your advice on behalf of my 24-year-old nephew who lives in China. He has been ill for 2 years with Muscular Dystrophy. Genetic testing shows it is Limb Girdle Muscular Dystrophy Type 2A, with 2 heterozygous pathogenic mutations inherited from mother and father.

He was always an athletic young man but now has weakness in his lower body, needs to push on his knees in order to stand upright, his knees are bowed, and to take the stairs he must hold the railing to go up slowly. He seems to have exhausted medical options in China; they have told him they have no cure but can only try to control or slow the progress of the disease. He has sent me 9 pages of medical records and test results for himself and his parents, in the hopes that US medicine can help.

What type of specialist can we turn to for consultation regarding Limb Girdle MD 2A? Would anyone even discuss this with me in the absence of the patient (who has given me full authority to glean information for him)? What are the major American hospitals or centers for this disease? Is there any effective treatment or medication for this in the US? Are there any other issues we should be aware of?

We are uncertain where to turn or how to proceed at this point; you are the first medical professional we thought to approach.

Thank you very much,

Dr. Cecilia Chien
West Chester, PA 19382
Mon, 29 Oct 2018
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