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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 .
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
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]
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]
The main symptoms of hypoparathyroidism are the result of the low blood calcium level, which interferes with normal muscle contraction and nerve conduction.As a result, people with hypoparathyroidism can experience paresthesia, an unpleasant tingling sensation around the mouth and in the hands and feet, as well as muscle cramps and severe spasms known as "tetany" that affect the hands and feet ...
PDQ Adult Treatment Editorial, Board (2002). "Adult Central Nervous System Tumors Treatment (PDQ®): Patient Version". National Cancer Institute (US). PMID 26389458. "Adult Central Nervous System Tumors Treatment (PDQ®)–Patient Version". National Cancer Institute. 15 November 2019. Brain and other central nervous system tumors | Cancer ...
The brain is susceptible to damage from conventional therapy. The brain has a limited capacity to repair itself. Many drugs cannot cross the blood–brain barrier to act on the tumor. Treatment of primary brain tumors consists of palliative (symptomatic) care and therapies intended to improve survival.