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Hereditary spastic paraplegia (HSP) is a group of rare genetic disorders. The main symptom is a progressive stiffness and weakness in the leg muscles. This is called "spasticity." It happens because the nerve pathways in the spine that control the legs are not working correctly.
read more about hereditary spastic paraplegia ...HSP is caused by a flaw in a gene that is passed down in a family. There are many different faulty genes that can cause HSP. These genes are supposed to give instructions for the long nerve fibers that run down the spinal cord. In HSP, these nerve fibers slowly break down over time.
The main symptoms are in the legs. A person with HSP will have very stiff and tight leg muscles. This can make walking difficult and cause them to trip or drag their feet. Symptoms often start slowly and get worse over many years. Some people may also have problems with their bladder or with balance.
Doctors put HSP into two groups. "Uncomplicated" or "pure" HSP is when the symptoms are only in the legs, with some possible bladder issues. "Complicated" HSP is when a person also has other neurological problems. This can include seizures, hearing loss, vision problems, or issues with coordination.
A doctor, usually a neurologist, will do a physical exam to check the person's muscle tone, reflexes, and walking. They will ask about the family medical history. To confirm the diagnosis and rule out other conditions (like multiple sclerosis), the doctor will order an MRI of the brain and spine. A genetic blood test can also be done to look for the specific faulty gene.
There is no cure for HSP, so treatment is focused on managing the symptoms. The most important treatment is physical therapy. Exercises can help to stretch the muscles, reduce stiffness, and keep the person as mobile as possible. A doctor may also prescribe medicines to help relax the stiff muscles. Some people may eventually need a cane or walker to help with balance.
While HSP does get worse over time, many people are able to keep walking, though they may need a walking aid. Only a small number of people with severe forms will eventually need to use a wheelchair.
No. For people with "uncomplicated" HSP, the condition does not affect their life expectancy. They will have a normal lifespan.
No. Cerebral palsy is caused by a brain injury that happens at birth. HSP is a genetic disease that causes nerve fibers to break down slowly over a person's life.
You should see a doctor if you are having new or worsening problems with walking. If you feel that your legs are becoming very stiff, or if you are tripping and falling often, it is important to get it checked. If you have a family history of HSP and are worried, you can also talk to a doctor.