ADH1 (Autosomal Dominant Hypocalcemia Type 1) is a rare, genetic condition related to hypoparathyroidism, that can result in chronically low levels of calcium in the blood and high levels of calcium in the urine. Patients can experience muscle cramping and weakness, poor memory and concentration, numbness and tingling in the hands, feet, and mouth, loss of consciousness, and seizures. ADH1 can be misdiagnosed as depression, dementia in adults, attention deficit disorder or a learning disability in children, as well as for epilepsy/seizures. ADH1 can be misperceived as chronic hypoparathyroidism. Some individuals given a hypoparathyroidism diagnosis may never learn that their condition is actually ADH1, which is why talking to a doctor to see if genetic testing may be appropriate is important. BridgeBio has partnered with Invitae to offer no-charge genetic testing to non-surgical hypoparathyroidism patients.
