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Hereditary Spastic Paraplegia

Group of inherited neurological disorders


Updated August 21, 2007

Hereditary spastic paraplegia (HSP) is the term for a group of inherited neurological disorders. There are at least 20 different forms of HSP. The disorder may begin at any age, from infancy through late adulthood. It is estimated to affect about 3 people per 100,000 worldwide, although since it is often misdiagnosed it is hard to accurately estimate its prevalence.

Hereditary spastic paraplegia causes progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. Common symptoms are:

  • difficulty walking (may trip and stumble frequently)
  • difficulty with balance
  • urinary frequency and urgency
  • muscle spasms
There is a great deal of variation in severity of symptoms from person to person, even for people in the same family. Generally, although people with HSP have difficulty walking, they do not completely lose the ability to walk.

There are rare "complicated" forms of HSP that have additional symptoms such as visual or hearing impairment, mental retardation, seizures, or impaired control of voluntary movement.

Diagnosis is made based on careful examination by a physician. HSP may be mistaken for vitamin B12 deficiency, mitochondrial disease, or amyotrophic lateral sclerosis (Lou Gehrig's disease). Genetic testing can be done for some forms of HSP. The University of Michigan Neurogenetic Disorders Clinic is the largest clinical and research program for HSP in the United States, and one of the few that offer comprehensive evaluation, including genetic testing.

There is no treatment yet available to stop the progress of HSP. Treatment is focused on relief of symptoms and maintaining muscle function and mobility. A physical therapist will help establish an exercise program for the person with HSP to help maintain muscle strength and range of motion. Assistive devices such as canes or walkers may help with standing and walking. Hereditary spastic paraplegia is not fatal and does not shorten the life span.

Information for this article was taken from:
- Spastic Paraplegia Foundation, Inc. HSP General Information.
- National Organization for Rare Disorders. Hereditary Spastic Paraplegia.
- Nam-Jong Paik. (2003). Hereditary spastic paraplegia. eMedicine, accessed at http://www.emedicine.com/pmr/topic45.htm

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