Medicines for Hereditary spastic paraplegia

What it is

Hereditary spastic paraplegia (HSP) is the name for a group of rare, inherited conditions that mainly cause progressive stiffness (spasticity) and weakness of the legs. It is caused by genetic changes that lead to a gradual deterioration of the nerve pathways in the spinal cord that control the leg muscles, so, over time, these muscles become stiff and weak. HSP is genetic and inherited (there are many different genetic types, inherited in different ways), and it can begin at various ages — from childhood to later adulthood — depending on the type. The main features of HSP relate to the legs: gradually developing stiffness (spasticity) in the leg muscles, which can make the legs feel tight and stiff; weakness of the legs; and problems with walking and balance (such as an increasingly stiff, sometimes unsteady, walk, tripping, or difficulty with mobility), which tend to progress slowly over time. Some people also have other associated symptoms, particularly in certain types — such as urinary symptoms (urgency), and, in some more complex forms, additional features affecting other parts of the nervous system or body. HSP is broadly divided into "pure" forms (mainly affecting the legs) and "complex" forms (with additional features). The rate of progression and the degree of disability vary widely between individuals and types — many people have a slowly progressive condition and remain mobile, sometimes with walking aids, over many years, while others are more affected. HSP mainly affects the legs and does not usually affect intelligence or lifespan (in the pure forms). There is currently no cure that stops or reverses HSP, but the condition is managed to relieve the stiffness, maintain mobility and function, and support the person: physiotherapy is central to maintaining movement, strength, and flexibility and managing the stiffness; medicines and other treatments can help reduce the muscle stiffness (spasticity); and aids, adaptations, and support help with mobility and daily life. The key messages are that HSP is a group of rare inherited conditions causing gradual leg stiffness and weakness, that there is no cure but it is usually slowly progressive, and that physiotherapy and treatments for the stiffness help maintain mobility.

How it is treated

Hereditary spastic paraplegia is managed to relieve the muscle stiffness, maintain mobility and function, and support the person, with physiotherapy central; there is no cure, but much can be done to help, and the condition is often slowly progressive. Diagnosis involves a neurological assessment, tests to look for the characteristic features and exclude other causes (such as scans and other investigations), and genetic testing, and is usually confirmed and managed with specialist (neurology) input. Because HSP mainly causes leg stiffness and weakness that progress slowly, management focuses on maintaining function and managing the symptoms. Physiotherapy is central: regular physiotherapy and exercises help maintain and improve the strength, flexibility, and range of movement of the legs, manage the stiffness, support walking and balance, and prevent complications (such as contractures — tightening of the muscles and joints); staying active within one’s ability is important. Managing the muscle stiffness (spasticity) is an important part of care, as it contributes to the walking difficulties: medicines that reduce muscle stiffness can help some people, and other treatments (such as injections to reduce stiffness in specific muscles, or other approaches) may be used, guided by specialists; physiotherapy and stretching also help manage stiffness. Occupational therapy helps with daily living, aids, and adaptations, and mobility aids (such as walking aids, or, for some, wheelchairs) support mobility and independence as needed. Managing any associated symptoms (such as urinary symptoms, which can occur) and, for complex forms, the additional features, is part of care. Because HSP is genetic, genetic counselling is offered to discuss the condition, its inheritance, and family planning, and support organisations for HSP provide information, support, and community. Ongoing, multidisciplinary care and support help people manage the condition and maintain function and quality of life over time, adapting as the condition progresses. Because HSP is often slowly progressive and, in the pure forms, mainly affects the legs without affecting intelligence or lifespan, many people are able to remain mobile and lead full lives, sometimes with aids and support. The reassuring messages are that HSP, although a lifelong inherited condition without a cure, is often slowly progressive, that physiotherapy and treatments for the stiffness help maintain mobility and function, that aids, adaptations, and support help with daily life, and that many people remain mobile and lead full lives; so physiotherapy, managing the stiffness, and ongoing support are the keys to managing HSP.