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A rterial calcification due to deficiency of CD73, or ACDC, is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands. The age of onset has been reported as early as the second decade of life. ACDC is caused by mutations in the NT5E gene and is inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
We are unaware of published diagnostic criteria for ACDC. However, in the past, a diagnosis of ACDC has been made by a combination of a thorough medical evaluation and genetic test results. Medical evaluations of people diagnosed with ACDC have ruled out other causes of leg and joint discomfort, such as rheumatoid arthritis or other joint-related problems. MRIs and x-rays of the vasculature of those affected have indicated calcium deposits in artery walls. Genetic testing in an affected person would identify mutations in the NT5E gene, which are the underlying genetic cause of ACDC.
Last updated on 05-01-20
Due to the rarity of this condition, there is very limited information available in the medical literature. We are not aware of specific treatment recommendations for ACDC, or of any therapies currently known to be effective. One affected individual reportedly was treated with surgeries to reroute blood flow through alternate vessels and had a joint amputation in the foot. Several possible future therapies have been proposed. Research is currently under way to investigate possible treatment options.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Click here to find trials relating to ACDC. This site may be checked often for new studies, as it is updated regularly.
Last updated on 05-01-20
NIH researchers identify genetic cause of new vascular disease.
Rare
disease is first discovered in Undiagnosed Diseases
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Last updated on 04-27-20
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