Hereditary Spastic Paraplegia (HSP)
- Article
- 2021-03-09
Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of hereditary conditions characterized by progressive weakness and spasticity (stiffness) of the legs. Slight walking difficulties and stiffness may occur at the beginning of the disease course. These symptoms usually develop slowly, so individuals with HSP may eventually require the assistance of a cane, walker, or wheelchair. While the primary features of "pure" HSP are progressive spasticity and lower limb weakness, complicated forms may be associated with other symptoms. These additional symptoms include impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy and deafness. Diagnosis of HSP is mainly through neurological examination and testing to rule out other conditions. Brain MRI abnormalities, such as a thin corpus callosum, can be seen in some of the complicated forms of HSP. Several genetic mutations underlying different forms of HSP have been identified, and specialized genetic tests and diagnoses are available in some medical centers. HSP has different forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms can begin in childhood or adulthood, depending on the specific HSP gene involved. Several genetic mutations underlying different forms of HSP have been identified, and specialized genetic tests and diagnoses are available in some medical centers. HSP has different forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms can begin in childhood or adulthood, depending on the specific HSP gene involved. Several genetic mutations underlying different forms of HSP have been identified, and specialized genetic tests and diagnoses are available in some medical centers. HSP has different forms of inheritance. Not all children in a family will necessarily develop symptoms, although they may be carriers of the abnormal gene. Symptoms can begin in childhood or adulthood, depending on the specific HSP gene involved.
Therapy
There are no specific treatments to prevent, slow down, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to maintain freedom of movement.
Prognosis
Prognosis for individuals with HSP varies. Some people are very handicapped and others are only mildly handicapped. Most people with uncomplicated HSP have a normal life expectancy.
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