Hereditary spastic paraparesis is a rare hereditary disorder that causes gradual weakness with muscle spasms (spastic weakness) in the legs.

• People have exaggerated reflexes, cramps, and spasms, making walking difficult.
• Doctors look for other family members who have the disorder, rule out disorders that can cause similar symptoms, and may do genetic tests.
• Treatment includes physical therapy, exercise, and drugs to reduce spasticity.

Hereditary (familial) spastic paraparesis affects both sexes and may begin at any age. It affects about 3 of 100,000 people. Usually, the gene for this disorder is dominant (see Genetics: Mutation). Therefore, children of a person with the disorder have a 50% chance of developing it. This disorder has several forms. All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord (to muscles). More than one area of the spinal cord may be affected.

Symptoms

Symptoms may begin at any age—from age 1 to old age—depending on the form.

Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky (called a spastic gait). Walking gradually becomes more difficult. People may stumble or trip because they tend to walk on their tiptoes with the feet turned inwards. Shoes are often worn down in the area over the big toe. Fatigue is common. In some people, muscles in the arms also become weak and stiff.

Usually, symptoms continue to slowly worsen, but sometimes they level off after adolescence. Life span is not affected.

About 10% of people with the disorder have other abnormalities due to damage of the brain, spinal cord, or nerves. For example, they may have eye problems, lack of muscle control, hearing loss, mental retardation, dementia, and peripheral nerve disorders.

Diagnosis

The disorder is diagnosed by excluding other disorders that cause similar symptoms (such as multiple sclerosis and spinal cord compression) and by determining whether other family members have hereditary spastic paraparesis. Blood tests (genetic testing) are sometimes done to check for the genes that cause the disorder.

Treatment

Treatment focuses on relieving symptoms. Physical therapy and exercise can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms.

Baclofen is the drug of choice to reduce spasticity. Alternatively, botulinum toxin, clonazepam, dantrolene, diazepam, or tizanidine may be used. Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.

Last full review/revision August 2007 by Michael Rubin, MDCM