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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 ...
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
MELAS syndrome. MELAS (M itochondrial E ncephalopathy, L actic A cidosis, and S troke -like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. [2]
Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.
[7] [8] [9] Genetic epidemiology studies have shown that Tourette's is highly heritable, [10] and 10 to 100 times more likely to be found among close family members than in the general population. [11] The exact mode of inheritance is not known; no single gene has been identified, and hundreds of genes are likely involved.
Tuberous sclerosis. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Gerstmann–Sträussler–Scheinker syndrome. A person with inherited prion disease has cerebellar atrophy. This is quite typical of GSS. difficulty speaking, developing dementia, memory loss, vision loss. Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, always fatal (due to it being caused by prions) neurodegenerative ...
Haemophilia figured prominently in the history of European royalty in the 19th and 20th centuries. Queen Victoria and her husband, Prince Albert, of the United Kingdom, through two of their five daughters – Princess Alice and Princess Beatrice – passed the mutation to various royal houses across the continent, including the royal families ...