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| Disease found: | ACDC |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare, autsomal recessive, 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 [more info] |
| Signs and Symptoms: | Progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands, arterial calcification, arterial occulsion [more info] |
| Diagnosis: | Genetic analyses for NT5E gene mutation [more info] |
| Treatment: | Etidronate [more info] |
| Clinical Management: | Long term medication management [more info] |
| Referral: | Cardiology. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical trail currently recruiting |