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| Neurology High Yield Notes | |
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Adrenoleukodystrophy (ALD)
by NCBI - 2077 reads, 0 votes
Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in the 1993 film "Lorenzo's oil." In this disease, the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and the adrenal gland degenerates, leading to progressive neurological disability and death....
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Fragile X syndrome
by NCBI - 1797 reads, based on 4 votes
Fragile X syndrome is the most common inherited form of mental retardation currently known. Fragile X syndrome is a defect in the X chromosome and its effects are seen more frequently, and with greater severity, in males than females....
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Von Hippel-Lindau syndrome
by NCBI - 1391 reads, based on 1 vote
Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas or hemangioblastomas. Growths may develop in the retina, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body....
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Charcot–Marie–Tooth syndrome
by NCBI - 2155 reads, based on 2 votes
Charcot–Marie–Tooth disease (CMT) is named after its three discoverers, who first noted the disease around the turn of the century. It is the most common inherited peripheral neuropathy in the world, characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm and a mild loss of sensation in the limbs, fingers, and toes. Full expression of CMT's clinical symptoms generally occurs by age 30. CMT is not a fatal disease, however, and the disorder does not affect normal life expectancy....
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Cockayne syndrome
by NCBI - 1854 reads, based on 1 vote
Edward Alfred Cockayne (1880–1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature, and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of 1 year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer....
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Angelman syndrome - Happy Puppet Syndrome
by NCBI - 2827 reads, 0 votes
Angelman syndrome (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the "happy puppet" syndrome....
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