HSP is a progressive gait disorder characterized by lower limb stiffness. First described by Adolph Strümpell in 1880, extensively by Maurice Lorrain in 1888. Disease affects upper motor neurons, not cerebral palsy
Genetic disorder affecting ears, eyes, cheekbones, and chin. Occurs in about one in 50,000 births worldwide. Named after Edward Treacher Collins, who described it in 1900. Usually autosomal dominant, with 60% occurring as new mutations
Genetic disorders result from genome abnormalities, affecting 65% of people. Over 6,000 known genetic disorders exist, with new ones constantly being discovered. Around 1 in 50 people have single-gene disorders, 1 in 263 have chromosomal disorders. Approximately 1 in 21 people have rare genetic disorders
GSD affects glycogen metabolism in muscles and/or liver cells. Genetic GSD results from defective enzymes or transport proteins. Environmental GSD occurs in livestock from castanospermine intoxication. Not all carbohydrate metabolism disorders are classified as GSDs
Genetic disorder affecting nervous system, first described by Harry Angelman in 1965. Affects 1 in 12,000 to 20,000 people, equally in males and females
CIPA is a rare genetic disorder causing inability to feel pain or sweat. Also known as hereditary sensory and autonomic neuropathy type IV. Disease is inherited autosomal recessively from both parents