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 Overview of the Peripheral Nervous System The peripheral nervous system refers to the parts of the nervous system that are outside the central nervous system, that is, those outside the brain and spinal cord. Thus, the peripheral nervous... read more .

Hereditary spastic paraplegia is diagnosed by excluding other disorders that cause similar symptoms (such as multiple sclerosis Multiple Sclerosis (MS) In multiple sclerosis, patches of myelin (the substance that covers most nerve fibers) and underlying nerve fibers in the brain, optic nerves, and spinal cord are damaged or destroyed. The cause... read more and spinal cord compression Compression of the Spinal Cord Injuries and disorders can put pressure on the spinal cord, causing back or neck pain, tingling, muscle weakness, and other symptoms. The spinal cord may be compressed by bone, blood (hematomas)... read more ) 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 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.

Baclofen (a muscle relaxant) is the medication of choice to reduce spasticity. Alternatively, botulinum toxin (a bacterial toxin used to paralyze muscles or to treat wrinkles), clonazepam, dantrolene, diazepam, or tizanidine may be used.

Some people benefit from using splints, a cane, or crutches. A few people require a wheelchair.