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Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. [ 1 ] [ 2 ] Its hallmarks are widespread progressive calcifications , cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina .
Calcification is the accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue, [1] [2] causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification. [3]
Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location, around joints, outside the joint capsule. [1] They are frequently (0.5–3%) seen in patients undergoing renal dialysis.
A central nervous system tumor (CNS tumor) is an abnormal growth of cells from the tissues of the brain or spinal cord. [1] CNS tumor is a generic term encompassing over 120 distinct tumor types. [2]
In May 2019, the FDA approved two tafamidis preparations for the treatment of transthyretin-mediated cardiomyopathy, but has not approved it for the treatment of transthyretin familial amyloid polyneuropathy. [15] In August 2018, the FDA approved patisiran, an siRNA-based treatment, at an expected cost of up to $450,000 per year. [16]
ARHR2 can cause weakening in the bones, pain in bones and joints bone deformities (knocked knees, bowed legs), dental problems, calcification of ligaments and short stature. With proper treatment the bones can be strengthened and side effects minimized. [7] [8] [9] GACI Type 2 is caused by mutations in the ABCC6 gene. It is called ABCC6 Deficiency.
TSC1 mutations tend to have a less severe phenotype and are more likely to be familial. [28] A major development in the treatment of this condition occurred in 2010s when the FDA approved mTOR inhibitors for the treatment of several manifestations of TSC. Epilepsy is among the most common manifestations of TSC and it occurs 80-90% of patients. [31]