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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
Kuru is a rare, incurable, and fatal neurodegenerative disorder that was formerly common among the Fore people of Papua New Guinea. Kuru is a form of prion disease which leads to tremors and loss of coordination from neurodegeneration. The term kúru means “trembling” and comes from the Fore word kuria or guria ("to shake") [2][3].
Creutzfeldt–Jakob disease (CJD), also known as subacute spongiform encephalopathy or neurocognitive disorder due to prion disease, is a fatal neurodegenerative disease. [4][1] Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. [4] Later symptoms include dementia, involuntary movements ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Lethal allele. Lethal alleles (also referred to as lethal or lethals) are alleles that cause the death of the organism that carries them. They are usually a result of mutations in genes that are essential for growth or development. [1] Lethal alleles may be recessive, dominant, or conditional depending on the gene or genes involved.
70 families worldwide are known to carry the gene associated with the disease, 37 sporadic cases diagnosed (as of September 20th, 2022) Fatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom. [2] The majority of cases are familial (fatal familial insomnia [FFI]), stemming ...
Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. [2][3] This results in people bleeding for a longer time after ...