Hereditary spastic paraplegia

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Hereditary spastic paraplegia
ICD-10 G11.4
ICD-9 334.1
eMedicine pmr/45 
MeSH D015419

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Overview

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.

Diagnosis

Diagnosis is primarily by neurological examination and testing to exclude other disorders. Specialized genetic testing and diagnosis are available at some medical centers.

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.

External links


Note: An early version of this article was taken from public domain text from http://www.ninds.nih.gov/health_and_medical/disorders/hereditarysp.htm

nl:Ziekte van Strümpell



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