Mindblown: a blog about philosophy.
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Leigh syndrome
Leigh Syndrome, also termed subacute necrotizing encephalomyelopathy, presents as a progressive neurometabolic disorder and often results from mitochondrial DNA mutation. Such mutations disrupt the mitochondria’s ability to produce the cellular energy. Furthermore, the central nervous system appears to be most directly affected by mitochondrial dysfunction. The onset of Leigh syndrome is usually prior to 2…
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Legg-calve-perthes disease
Legg-Calve-Perthes disease, or avascular necrosis of the femoral head, involves loss of blood supply to the proximal epiphysis of the femur. The etiology of this disease is unknown.
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Laurence-Moon syndrome
Laurence-Moon syndrome (LMS) is a rare inherited disorder. It is thought to be inherited as an autosomal recessive genetic trait. There is some confusion regarding the difference between Laurence-Moon syndrome and Bardet-Biedl syndrome. Some researchers believe that Bardet-Biedl Syndrome is a subdivision of Laurence-Moon Syndrome, and they refer to it as Laurence-Moon-Bardet-Biedl Syndrome.
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Laband syndrome
Laband syndrome, also known as Zimmermann-Laband syndrome, is a rare genetic disorder characterized by craniofacial abnormalities, abnormalities of the hands and feet, and gingival fibromatosis. This is an autosomal dominant genetic condition that impacts tissues all over the body. It leads to bone irregularities, extremely flexible joints, finger clubbing, and absence of nails. Additional characteristics…
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Kugelberg-Welander disease
Kugelberg-Welander disease is one of a group of disorders referred to as spinal muscular atrophies (SMA); Kugelberg- Welander disease is SMA Type III. It is characterized by degeneration of the anterior horn cells of the spinal cord. It becomes evident between 2 and 17 years of age. Kugelberg- Welander disease is believed to be genetically…
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Kufs disease
Kufs disease is a late-onset variant of the neuronal ceroid lipofuscinoses (NCLs). There are four types of NCL, all of which have begun to be referred to as Batten disease. NCLs are inherited neurodegenerative storage disorders involving the accumulation of excessive abnormal lipo-pigments with fingerprint or granular ultrastructural patterns in the neurons and other cells…
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Klippel-Trenaunay-Weber syndrome
Klippel-Trenaunay-Weber syndrome (KTWS) is an uncommon disorder in which asymmetrical enlargement (hypertrophy) of a limb or limbs and hemangiomas (blood vessel malformations) are the most consistent features. Hemangiomas are found most frequently on the skin but may occur in several other areas. A uncommon condition typically impacting a limb, where a significant abnormality in blood…
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Klippel-trenaunay syndrome
Klippel-Trenaunay syndrome (KTS) is a congenital, vascular condition that usually affects the extremities. It also is known as angio-osteohypertrophy, nevus varicousus osteo- hypertrophicus syndrome, hemangiectasia hypertrophicans, and nevus verucosus hypertrophicans (Health Encyclopedia, 2001) and is commonly confused with several other similar conditions, including Klippel-Trenaunay- Weber syndrome, and Sturge-Weber syndrome. The most common characteristics of KTS…
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Kienbock disease
Kienbock disease is the slow, progressive osteochondrosis (degeneration followed by recalcification) of the carpal lunate bone in the wrist. The disease causes pain, inflammation, and stiffness. It also is known as lunatomalacia, aseptic necrosis, osteochondrotitis, traumatic osteoporosis, and osteitis, and it can be classified as a type of cumulative trauma disorder. Kienbock disease usually occurs…
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Kennedy disease
Kennedy disease is one of a group of disorders referred to as spinal muscular atrophies. Kennedy disease is a progressive spinobulbar muscular atrophy (SBMA) that presents in individuals between 15 and 60 years of age. Kennedy disease involves instability of the trinucleotide repeats similar to fragile X, Huntington disease, Machado-Joseph disease, and myotonic dystrophy. In…
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