Hereditary Spastic Paraparesis

Hereditary spastic paraparesis is a rare hereditary disorder in which the legs gradually become spastic and weak.

Hereditary (familial) spastic paraparesis, also known as Strümpell-Lorrain disease, 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 Section 1, Chapter 2); therefore, children of a person who has the disorder have a 50% chance of developing it.

Symptoms and Diagnosis

Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky. Walking becomes gradually more difficult. People may stumble or trip because they drag their toes. Babinski's sign, an abnormal reflex of the toes, may be present. Fatigue is common. In some people, muscles in the arms also become weak and stiff. Usually the symptoms continue to slowly worsen, but sometimes they level off after adolescence. Lifespan is not affected.

About 10% of people who have hereditary spastic paraparesis have other neurologic abnormalities, such as eye problems, lack of muscle control, hearing loss, mental retardation, dementia, and peripheral nerve disorders.

The disorder is diagnosed by excluding other disorders that produce similar symptoms (such as multiple sclerosis and spinal cord compression) and by determining whether other family members have hereditary spastic paraparesis. In the future, blood tests to detect the genes that cause the disorder may be available.

Treatment

Treatment is aimed at 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, tizanadine, diazepam, clonazepam, or dantrolene may be used. Some people may benefit from using splints, a cane, or crutches. A few people require a wheelchair.