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What is the life expectancy for those with phelan mcdermid syndrome?
Wiki User
∙ 11y ago
A deletion or other structural modification of the terminal end of chromosome 22 in the 22q13 region, or a disease-causing (pathogenic) variation of the SHANK3 gene, causes Phelan-McDermid syndrome (PMS). Phelan-McDermid syndrome does not have a specific treatment. The focus of treatment is on addressing the symptoms while also thoroughly screening for any related diseases. New therapies for this condition are now being tested in clinical studies.
Cure SHANK
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CureSHANK has a singular purpose: To accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders. Our approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.
Wiki User
∙ 11y agoThe life expectancy is generally normal for those with Phelan-McDermid Syndrome.
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