Hereditary Spastic Paraplegia

What is hereditary spastic paraplegia?

Hereditary spastic paraplegia (pronounced “huh-RED-eh-ter-ee” “SPAS-ti”k “par-uh-PLEE-jee-uh”) is a group of inherited conditions that cause weakness and tightness (spasticity) in your leg muscles. Symptoms are progressive. This means they get worse over time.

Early in your diagnosis, symptoms may make you feel clumsy. You might trip and stumble when walking because you don’t pick your foot up high enough to step over a curb or rug, for example. Over time, this can lead to falls and injuries, making walking difficult and unsafe. You may need mobility assistance, like with a cane, walker or wheelchair, years after you first notice symptoms.

You may hear your healthcare provider refer to hereditary spastic paraplegia as:

• Familial spastic paraparesis.
• Hereditary spastic paraparesis.
• Strümpell-Lorrain syndrome.

What are the types of hereditary spastic paraplegia?

There are more than 80 types of hereditary spastic paraplegia. Each type of spastic paraplegia (SPG) has a number designation, for example, SPG1 or SPG2, based on the order in which each type was discovered.

Healthcare providers classify these as:

• Uncomplicated hereditary spastic paraplegia (pure): About 90% of people with hereditary spastic have the uncomplicated type. The main symptoms of this type are spasticity and muscle weakness.
• Complicated hereditary spastic paraplegia: About 10% of people with hereditary spastic paraplegia have the complicated type. Complicated symptoms include spasticity and weakness, in addition to a wide range of symptoms that impact your brain, spinal cord and nerves (neurological symptoms).

How common is hereditary spastic paraplegia?

It’s difficult to know exactly how many people have hereditary spastic paraplegia because the condition is often misdiagnosed. Researchers estimate it affects an estimated 1 to 5 out of every 100,000 people around the world.

What are the symptoms of hereditary spastic paraplegia?

The main symptoms of hereditary spastic paraplegia affect the muscles in your legs and include:

• Stiffness (spasticity).
• Weakness.

Depending on the type, you may experience other symptoms. For uncomplicated hereditary spastic paraplegia, additional symptoms may include:

• Loss of feeling (numbness) in your feet.
• Not being able to control when you pee.
• Feeling like you need to poop or pee when your bowels or bladder aren’t full.

Other symptoms of complicated hereditary spastic paraplegia may include:

• Decline in mental function (dementia).
• Difficulty with balance and coordination (ataxia).
• Eye problems, including low vision, cataracts, optic nerve damage (optic atrophy) or retina damage (retinopathy).
• Hearing loss.
• Learning disabilities, cognitive impairment or developmental delay.
• Muscles thinning out (atrophy).
• Nerve damage in your arms and legs (peripheral neuropathy).
• Problems with breathing (dyspnea), speech (aphasia) or swallowing (dysphagia).
• Seizures.
• Thick, dry skin that looks like fish scales (ichthyosis vulgaris).

What causes hereditary spastic paraplegia?

A genetic variant causes hereditary spastic paraplegia. The gene changes the instructions that proteins receive. As a result, the proteins aren’t able to do their job as expected, which affects how the nerves in your spinal cord function. Several different gene variants lead to this condition.

Hereditary spastic paraplegia is inherited — meaning, you receive at least one copy of the gene from your biological parents in one of the following ways:

• Autosomal dominant: You receive one copy of the gene from one of your parents.
• Autosomal recessive: You receive two copies of the gene, one from each of your parents.
• X-linked: A parent assigned female at birth (AFAB) passes one gene on a sex chromosome to their child assigned male at birth (AMAB).
• Mitochondrial inheritance (maternal transmission): A parent AFAB passes a mitochondrial gene to their child of any sex.

While less common, genetic changes happen randomly or sporadically and may show up for the first time in a person’s biological family history.

What are the risk factors for hereditary spastic paraplegia?

Hereditary spastic paraplegia can affect anyone. You’re more at risk of developing the condition if one or both of your biological parents carry the genetic variant that causes this condition.

What are the complications of hereditary spastic paraplegia?

The following are complications of hereditary spastic paraplegia:

• Back pain and knee pain.
• Cold feet.
• Fatigue.
• Hardening and shortening of your calf muscles.

It isn’t easy living with a condition that affects your mobility. The activities you once could do are now difficult or unsafe. This can have a significant impact on your mental health. It may lead to stress and depression. Don't hesitate to contact your healthcare provider if you notice you’re having more bad days than good ones. They may recommend you speak with a mental health professional to help you manage how this progressive condition affects your emotional well-being.

How is hereditary spastic paraplegia diagnosed?

A healthcare provider will perform a physical exam, neurological exam and testing to diagnose hereditary spastic paraplegia. During the exams, your provider will learn more about your symptoms, medical history and family medical history. They’ll also review your:

• Sensation of touch.
• Balance.
• Coordination.
• Mental function.
• Motor function.
• Reflexes.

If your provider suspects hereditary spastic paraplegia, they may suggest tests including:

• Electromyography: Your provider inserts thin needles into your muscles and records how your nerves respond to electrical shocks. They use this test to see how your muscles and nerves function.
• Genetic testing: Your provider takes a blood or saliva test to look for genetic variants.
• Magnetic resonance imaging (MRI): An MRI uses radio waves, a magnet and a computer to take images of your brain tissue and spine. An MRI may show brain abnormalities in some forms of complicated HSP.
• Spinal tap (lumbar puncture): Your provider may insert a needle into your lower back to take a cerebrospinal fluid (the fluid that your brain and spinal cord sit within) sample for testing.

It can take some time to receive an accurate diagnosis in some cases. Hereditary spastic paraplegia symptoms can look very similar to other conditions like:

• Cerebral palsy.
• Multiple sclerosis.
• Pelizaeus-Merzbacher disease.
• Spinal stenosis.

How do you treat hereditary spastic paraplegia?

There isn’t a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include:

• Medications (muscle relaxants, botulinum toxin injections, baclofen).
• Physical therapy.
• Occupational therapy.
• Medical shoe inserts (orthotics).
• Mobility devices, like a cane, crutches, splints or a wheelchair.

Your provider may have other treatment recommendations based on your symptoms.

Can hereditary spastic paraplegia be prevented?

There’s no known prevention available for hereditary spastic paraplegia. As it’s a genetic condition, you can learn more about your risk of HSP and other genetic conditions by talking to a healthcare provider or a genetic counselor about genetic testing.

What’s the outlook for hereditary spastic paraplegia?

Your outlook varies based on the severity of symptoms. The condition is progressive and symptoms may get worse as you get older. This usually happens slowly and can take years. It might affect your ability to walk on your own, requiring the use of mobility devices.

If you have other neurological symptoms (symptoms that affect your brain, spinal cord and nerves), it could affect your quality of life. You may need assistance or support throughout your life as necessary.

What is the life expectancy of hereditary spastic paraplegia?

Hereditary spastic paraplegia usually doesn’t affect your life expectancy. Certain types of this condition may have a different prognosis. Your healthcare provider is the best person to ask about what you can expect from your situation.

When should I see a healthcare provider?

Let a healthcare provider know if your symptoms worsen or if you notice any new symptoms. Your provider may adjust your treatment to help you manage this progressive condition.

What questions should I ask my healthcare provider?

If you have hereditary spastic paraplegia, you may want to ask your provider:

• What type of spastic paraplegia do I have?
• What type of treatment do you recommend?
• Are there side effects of the treatment?
• Do I need to use a cane, walker or wheelchair?
• What activities are safe for me to do?