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 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