Hereditary spastic paraplegia

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ICD9 = | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = pmr | eMedicineTopic = 45 | MeshID = D015419 |Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. Adolph Strümpell (a German neurologist) was the first MD to study this disease in a German family (1880), and Maurice Lorrain (a French MD) published a study about the disease in 1888.

Symptoms

Though the primary feature of HSP is severe, progressive, lower extremity spasticity, in more complicated forms it can be accompanied by other neurological symptoms. These include optic neuropathy, retinopathy (diseases of the retina), dementia, ataxia (lack of muscle control), icthyosis (a skin disorder resulting in dry, rough, scaly skin), mental retardation, peripheral neuropathy, and deafness.Despite the name of this condition,"hereditary spastic paraplegia / paraparesis" there is often minimal weakness with spasticity being the predominant feature limiting function.The symptoms are a result of progressive degeneration of the corticospinal or pyramidal tracts and the predominant involvement of the lower limbs often with bladder spasticity reflects degeneration of the upper motor neurons with the longest axonal projections.

Diagnosis

Diagnosis is primarily by neurological examination and testing to exclude other disorders. Specialized genetic testing targeted towards known genetic mutations are available at certain specialized centers. A wide variety of mutations have been found 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, or reverse HSP. Symptomatic treatments used for other forms of chronic paraplegia are sometimes helpful. Regular physical therapy is important for improving muscle strength and preserving range of motion.

Prognosis

The prognosis for individuals with HSP varies. Some cases are seriously disabling while others are less disabling and are compatible with a productive and full life. The majority of individuals with HSP have a normal life expectancy.

Research

The National Institute of Neurological Disorders and Stroke supports research on genetic disorders such as HSP. Genes that are responsible for several forms of HSP have already been identified, and many more will likely be identified in the future. Understanding how these genes cause HSP will lead to ways to prevent, treat, and cure HSP.

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