An introduction to HSP

I needed a summary of HSP, and I was hunting around various support groups and social media pages, but none quite said what I wanted to get across, so I borrowed heavily from many sources and wrote my own:

What is Hereditary Spastic Paraplegia?

Hereditary Spastic Paraplegia (HSP) is a diagnosis which covers a large group of rare genetic disorders. HSP is a neurological condition, principally affecting the bodies longer muscle control nerves. There are upwards of 80 types of HSP which are generally inherited, with different types having different inheritance patterns. People with HSP can show their first symptoms at any age, although the most common ages of onset are in childhood (up to age 5) or in adulthood (age 35-50). HSP symptoms progress slowly over many years, and additional symptoms can develop as the condition progresses. HSP has several names, and is also known as Hereditary Spastic Paraparesis, Familial Spastic Paraplegia (FSP), Strümpell-Lorrain Syndrome, and some types of HSP have their own names.

Symptoms

The main symptoms are stiffness, spasticity or weakness in the lower limbs, leading to difficulties walking. There is large variation in both the speed of progression of HSP and in its severity (the amount HSP affects you). Some people may end up with mild difficulties walking. Others may be unable to walk and require a wheelchair most of the time. Those with HSP which significantly affects their mobility are likely to need different mobility aids as their symptoms change over time, and they may need various modifications at home or at work.

In addition to mobility issues many are affected by bladder problems, pain, and fatigue, and some will get numbness, tingling or other sensations. The effects of a person’s symptoms may vary from day to day more than their year-on-year progression. Life expectancy does not change for the majority.

Certain types of HSP are regarded as complex (affecting around 10% of people with HSP) and further additional symptoms may include problems with balance or coordination, learning/memory issues, problems with speech, vision, hearing or swallowing, problems with the skin, dementia, epilepsy or nerve damage. 

Diagnosis

As HSP is a rare disease (affecting around 3 in 100,000) it is not known by many medical professionals. The early symptoms of HSP are similar to other more common conditions and getting a diagnosis can be a long uncertain journey, potentially with several misdiagnoses along the way. Genetic testing is available for some types of HSP. Because there is such a wide range of potential symptoms, the speed of progression and ultimate severity are difficult to estimate for an individual.

Wellbeing 

It is difficult for people with HSP to get a clear picture how HSP will affect them over time, and plan for changes they may need to make, which can lead to feeling very uncertain about the future. Some with HSP are depressed, feel lonely, feel isolated or feel vulnerable. It is important for people with HSP to have a purpose in life and to take part in activities which they enjoy as these can help improve their wellbeing. It may be necessary to find new hobbies or interests as mobility changes over time. 

Treatment

At the moment there are no cures for HSP. Whilst there are many research teams looking into HSP around the world, all the current treatment is around symptom management. Someone with HSP may have a series of stretches and other exercises to do, they may take medication for spasticity, pain, their bladder and depression. Work on HSP is being done in many areas; to better understand how HSP works, to provide tools which can help assess HSP and its progression, to investigate new medicinal or other treatments, to explore genetic modification, and ultimately to identify if a cure can be found.

Support

There are various HSP support communities around the world which many with HSP enjoy participating with. The ability to share stories and experiences with others helps reduce feelings of isolation, and some groups also provide support in other ways. There are several support groups in Europe, mostly under the umbrella EuroHSP. There are other groups in the USA, Australia and Brazil. On-line communities include RareConnect, and there are numerous FaceBook groups and other social media groups.