Hereditary Spastic Paraplegia is a rare disease.

We estimate that between 2 & 10 people carry HSP for every 100,000 of population. There are 30 000 000 people affected by any one of the 8 000 rare diseases in Europe.

As an orphan disease,

this condition has not received very much attention for a long time, specially from the pharmaceutical industry. Described for the first time in 1880 by Doctor Adolf Strümpell (who published his thesis in 1896), it had been unknown until that date. The small number of affected patients has gained interest from clinicians and researchers about 15 years ago, which improved considerably the clinical and genetic diagnosis.

HSP is a rare hereditary transmitted condition, progressive and disabling.

Research has provided genetic diagnosis for half of the known cases until now. However, it is still not possible to predict at what age the disease will manifest in an individual - it can be at an advanced age and it can vary significantly even within the same affected family - the extent and the severity of the disease, and how it will evolve.

HSP is characterized by the degeneration of the spinal cord

which shows itself by a difficulty of walking, that can develop to a near paralysis. Urinary troubles and other complications are often associated, such as tiredness, pain and a depressive state, or more serious pathologies.

Spasticity

(with possible trembling and contractions) is a constant sign of HSP. It consists of involuntary muscle spasms of variable intensity, responding to a range of stimuli such as stress, cold or tiredness. This can require patients to use  sticks, other walking aids, and wheelchairs. However, HSP can also remain without causing problems for a long time.

The therapies available

deal with the symptoms, not the causes of the disease. Anti-spastic medicines such as Baclofen or Tizanadine are commonly prescribed (with frequent side effects) and Botox injections can also be beneficial. These treatments generally result in a reduction of muscular stiffness but their positive effect varies from person to person.

Physiotherapy

has revealed until now the symptomatic treatment with the most beneficial effects : gentle stretching, joints’mobilisation, massages and watertherapies.

Organising ones daily life

(mechanical aids, work conditions, altered lifestyle) is essential.

But most of all, one must take care of one’s own health, one is not responsible or to blame for the disease, one must take control of one’s life in order to have the best life possible.