Hereditary (familial) spastic paraplegia is a group of rare hereditary disorders that cause gradual weakness with muscle spasms (spastic weakness) in the legs.
People with hereditary spastic paraplegia 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 medications to reduce spasticity.
(See also Overview of Spinal Cord Disorders.)
Hereditary spastic paraplegia affects both sexes and may begin at any age. It affects about 1 to 10 of 100,000 people.
This disorder has many forms and can result from many different types of genetic abnormalities. 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 of Hereditary Spastic Paraplegia
Symptoms of hereditary spastic paraplegia 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) when walking. Walking gradually becomes more difficult. People may stumble or trip because they tend to walk on their tiptoes with the feet turned inward. 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. Sensation and bladder and bowel function are usually not affected.
Usually, symptoms continue to slowly worsen, but sometimes they level off after adolescence. Life span is not affected.
Many forms of hereditary spastic paraplegia damage other parts of the body in addition to the spinal cord. These forms may cause other problems, such as eye problems, lack of muscle control, hearing loss, intellectual disability, dementia, and peripheral nerve disorders.
Diagnosis of Hereditary Spastic Paraplegia
Exclusion of other disorders with similar symptoms
Identification of family members with the disorder
Sometimes genetic tests
Hereditary spastic paraplegia 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 paraplegia.
Blood tests to check for the genes that cause the disorder (genetic testing) are sometimes done. Consultation with a genetic counselor is recommended.
Treatment of Hereditary Spastic Paraplegia
Physical therapy and exercise
A drug to reduce spasticity
Treatment of all forms of hereditary spastic paraplegia 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.
Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.
