Research on disability

HSP is short for Hereditary Spastic Paraplegia, which is a general term for a group of rare disorders. These disorders are also known as a familial spastic paraparesis or Strümpell-Lorrain syndrome. The syndrome causes a gradual weakening of the muscles in the legs, and a gradual increase of the leg stiffness. Because it is a rare disorder, it is often misdiagnosed, which makes it hard to know exactly how many people have it. However, the estimation is a range from 1 in 11,000 people to 1 in 77,000 people.

Symptoms

The symptoms of HSP vary from person to person. Most people who have the syndrome (90%) have something that is also known as a more “pure form”. In other words, their symptoms are mainly causing a lower limb weakness, involuntary spasms and muscle stiffness.

The other part of the group that has a HSP diagnoses (10%), has a more complex form of the disorder. This means that they still have the most important symptoms (muscle weakness and spasticity), but they experience other symptoms in addition to that. Therefore they may have a very wide range of symptoms.

Pure hereditary spastic paraplegia

Main symptoms of the pure form of hereditary spastic paraplegia are:

A gradual weakness in the legs
Increased muscle tone and stiffness (spasticity)
Problems peeing – such as an urgent need to pee, even when the bladder is not full
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

Additional symptoms in complicated hereditary spastic paraplegia may include:
Nerve damage in the feet or other extremities (peripheral neuropathy)
Epilepsy
Problems with balance, co-ordination 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 problem

Cause

Most of the times, the cause of pure hereditary spastic paraplegia is the heritage of a faulty gene from one of the parents.

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

The heritage of the gene causes the long nerves in the spine to deteriorate. Those long nerves control the muscle tone and movement in the lower body. This means that when they deteriorate, the ‘normal functioning’ of the legs is disturbed and the leg muscles get weaker and stiffer.

Diagnoses

Like mentioned before, diagnosing this disorder is very hard. Often, people with HSP are misdiagnosed. Diagnosis usually happens after a thorough clinical examination and the identification of typical symptoms. Before a person is diagnosed with HSP, other conditions that could cause the symptoms have to be ruled out.

After that, a number of specialized tests may be used during diagnosis, including MRI scans of the brain and spine, cerebrospinal fluid analysis, nerve conduction tests and an EMG. In some cases, the person needs to be genetically tested.

Treatment

Prevention, slowing down or reversing it is not possible with this disorder. However, some of the symptoms can be managed in order to make day-to-day activities easier. These can be muscle relaxants that help relieve some spasticity, occupational therapy to help with daily activities and independence, orthosis to help straighten and control ankle and foot or surgery to release tendons on short muscles.

Complications

There are some possible complications which come with this disorder.

These include:

shortening and hardening of the calf muscles – 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 symptoms interrupting sleep
back and knee pain – caused by the muscle weakness and walking problems
stress and depression

Consequences

The consequences for people with HSP varies per person. Some people are severely affected and will permanently need a wheelchair, while others have less symptoms and do not need to use any mobility aid. The life-expectancy is usually not affected by this disorder, and most people are able to live relatively independent and active lives.