Hereditary spastic paraplegia

Symptoms of hereditary spastic paraplegia

Hereditary spastic paraplegia is also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.

The severity and progression of symptoms will vary from person to person.

It's difficult to know how many people have hereditary spastic paraplegia because it's often misdiagnosed. About 90 per cent of people with hereditary spastic paraplegia have a pure form. Their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity).

The remaining 10 per cent have a complicated or complex form of the condition. This means they have other symptoms as well as the muscle weakness and spasticity. They may have a wide range of symptoms.

Pure hereditary spastic paraplegia

The main symptoms of pure hereditary spastic paraplegia are:

• a gradual weakness in the legs
• increased muscle tone and stiffness (spasticity)
• urinary problems – such as a sense of urgency even when the bladder isn't full 
• a lack of sensation in the feet (sometimes)

Children may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground. This is because it's difficult for them to bend their toes upwards as a result of having weak hip muscles.

Some people may eventually need to use a walking cane or a wheelchair to help them get around. Others may not need to use any type of mobility equipment.

Complicated hereditary spastic paraplegia

In complicated hereditary spastic paraplegia, additional symptoms may include:

• nerve damage in the feet or other extremities (peripheral neuropathy)  
• epilepsy
• problems with balance, coordination and speech (ataxia)
• eye problems – such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy)
• dementia
• ichthyosis – a condition that causes widespread and persistent thick, dry, "fish-scale" skin
• learning and developmental problems 
• hearing loss
• speech, breathing or swallowing problems

Causes of hereditary spastic paraplegia

Most people with pure hereditary spastic paraplegia will have inherited a faulty gene from one of their parents.

People with the complicated form of the condition will have usually inherited a faulty gene from both parents.

The gene abnormality causes the long nerves in the spine to deteriorate. These nerves normally control muscle tone and movement in the lower body. 

Diagnosing hereditary spastic paraplegia

Hereditary spastic paraplegia is diagnosed following a thorough clinical examination and the identification of typical symptoms.

It's difficult to know how many people have hereditary spastic paraplegia because it's often misdiagnosed.

Other conditions that cause mobility problems and muscle stiffness and weakness, such as multiple sclerosis and cerebral palsy need to be ruled out first.

A number of specialised tests may be used during diagnosis, including:

• MRI scans of the brain and spine
• cerebrospinal fluid analysis
• nerve conduction tests
• an EMG 

In some cases, genetic testing may also be needed.

Treating hereditary spastic paraplegia

It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier.

For example:

• muscle relaxants and botulinum (Botox) injections can be used to help relieve spasticity
• regular physiotherapy is important for helping improve and maintain muscle strength and range of movement
• occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible
• ankle-foot orthosis can be worn on the lower leg to help straighten and control the ankle and foot and improve walking 
• surgery may occasionally be needed to release tendons or shortened muscles

Complications of hereditary spastic paraplegia

Possible complications of hereditary spastic paraplegia include:

• shortening and hardening of the calf muscles – having regular physiotherapy may help prevent this
• cold feet – this is fairly common and occurs as a result of the deterioration of the nerves in the spine 
• extreme tiredness (fatigue) – this may be because of the extra effort needed for walking and the symptoms interrupting sleep
• back and knee pain – caused by the muscle weakness and walking problems
• stress and depression

Outlook

The outlook for people with hereditary spastic paraplegia varies.

Some people are severely affected and need a wheelchair, while others have mild symptoms and don't need to use a mobility aid.

The condition doesn't usually affect life expectancy, and most people are able to lead reasonably independent and active lives.

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