Definition:
Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis (FSP), refers to a group of inherited disorders that are marked by progressive weakness and stiffness of the legs
Diagnosis:
Diagnosis is done primarily by neurological examination and testing to exclude other disorders. Specialized genetic testing focused towards known genetic mutations are available at certain specialized centers. A wide variety of mutations have been detected in various genes, however mutations in the spastin and atlastin genes account for most of the identified mutations in "uncomplicated" forms of HSP.
Treatment:
There are no specific treatments to prevent, slow down, or reverse HSP. Symptomatic treatments used for other forms of chronic paraplegia may sometimes be helpful. Regular physical therapy is a crucial factor for improving muscle strength and preserving range of motion.
Symptoms and Signs:
Though the primary feature of HSP is severe, progressive, lower extremity spasticity, in more progressed forms it can be accompanied by other neurological symptoms. These include optic neuropathy, retinopathy (diseases of the retina), ataxia (lack of muscle control), dementia, icthyosis (a skin disorder resulting in dry, rough, scaly skin), mental retardation, peripheral neuropathy, and deafness.
Causes:
Familial spastic paraplegia is a condition that is inherited.
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hereditaryspasticparaplegia
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