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Hereditary Spastic Paraplegia

What is Hereditary Spastic Paraplegia?

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

Hereditary spastic paraplegia  diagnosis

The diagnosis of uncomplicated Hereditary spastic paraplegia is established in individuals with: insidiously progressive bilateral lower extremity weakness and increased muscle tone that is maximal in the iliopsoas, hamstring, and tibialis anterior muscles; lower extremity hyperreflexia and extensor plantar responses, often accompanied by mildly impaired vibration sensation in the distal lower extremities; and family history of similarly affected individuals. Magnetic resonance imaging (MRI) of the brain and spinal cord are usually normal. For the vast majority of individuals hereditary spastic paraplegia is a diagnosis of exclusion. The differential diagnosis includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy and other leukodystrophies, and dopa-responsive dystonia.

Is there any treatment for Hereditary spastic paraplegia?

There are no specific treatments to prevent, slow, or reverse Hereditary spastic paraplegia. 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.

What is the prognosis for Hereditary spastic paraplegia?

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.

What research is being done for Hereditary spastic paraplegia?

The NINDS 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 .

Select this link to view a list of studies currently seeking patients





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