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Hereditary Spastic Paraplegia (HSP): The Rare Disease No One Talks About
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Overview

 

Hereditary spastic paraplegia (HSP), is a group of inherited diseases whose main feature is progressive stiffness and contraction (spasticity) in the lower limbs,as a result of damage to or dysfunction of the nerves.

HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as, for example, spastic diplegia. The origins of HSP are entirely separate phenomena from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to try to treat HSP symptomatology.

The condition sometimes also affects the optic nerve and retina of the eye, causes cataracts, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. HSP is caused by defects in the mechanisms that transport proteins and other substances through the cell. Long nerves are affected because they have to transport cellular material through long distances, and are particularly sensitive to defects of cellular transport.

Hereditary spastic paraplegia was first described in 1883 by Adolph Strümpell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician.

http://www.checkorphan.org/diseases/hereditary-spastic-paraplegia

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