Hereditary spastic paraplegia is a group of rare inherited conditions that causes muscle weakness and stiffness in the lower legs. The faulty gene causes the long nerve in the spine to deteriorate. As the symptoms can mimic other conditions, hereditary spastic paraplegia is often misdiagnosed.
It is a progressive condition with no cure. People with the condition may have trouble walking and eventually may need to use walking aids. They may also take medications and do physiotherapy to relief the symptoms. People with this condition can also experience incontinence, fatigue and falls. They may also experience wear and tear in the joints and may need joint replacement operations. The reduced mobility can lead to social isolation and consequently higher risk of mental illness.
People with this condition have reported difficulties accessing specialist care centres. Local patient support groups provide much needed peer support but there may be inequality with access. To help inform the planning of health service provision, it is important to estimate how many people are living with this condition in the UK and whether this varies by sociodemographic factors (e.g. ethnicity, geographical locations). Information on associated symptoms and complications can inform patients of their prognosis. Information on common misdiagnosis and health care utilisation will help improve care provided to people with this condition.
This study aims to describe the epidemiology of hereditary spastic paraplegia in the UK using routine health records from general practices and hospitals, death registry and linked small area data (for sociodemographic data). The study objectives include: estimating the incidence and prevalence of hereditary spastic paraplegia and stratify this by sociodemographic factors; describing the burden of symptoms and associated complications; health care utilisation; explore common misdiagnosis; and explore the utility of primary and secondary care routine health records in studying hereditary spastic paraplegia.
The exposure is a diagnosis of hereditary spastic paraplegia. Outcomes will include all cause mortality, associated symptoms and complications (mental illness, incontinence, fatigue, falls and osteoarthritis), health care utilisation (hospital admission for falls, joint replacement therapy), and medication utilisation for symptom management (e.g. baclofen to manage spasticity).
Incidence and prevalence will be estimated using sequential cross sectional and cohort studies for years 2000 to 2022. Outcomes will be estimated with cox regression analysis with a matched cohort study design. Comparisons will be made between people with and without a diagnosis of hereditary spastic paraplegia, matched for age (+/- 1 year) and sex.
(1) Hereditary spastic paraplegia
(2) Mental illness such as depression, anxiety
(3) Urinary and faecal incontinence
(4) Chronic fatigue syndrome
(5) Falls and hospital admissions for falls
(6) Osteoarthritis
(7) Knee and / or hip replacement
(8) All-cause mortality
(9) Prescription of medications for spasticity (baclofen, benzodiazepine), pain (neuropathic agents), incontinence (oxybutynin), antidepressants
(10) Preceding diagnosis (HSP mimickers): Cerebral Palsy, Multiple Sclerosis, Ataxia, Arthritis, Herniated disc and Neuropathy.
Krishnarajah Nirantharakumar - Chief Investigator - University of Birmingham
Siang Ing Lee - Corresponding Applicant - University of Birmingham
Anuradhaa Subramanian - Collaborator - University of Birmingham
Harini Jeyakumar - Collaborator - University of Birmingham
Joht Singh Chandan - Collaborator - University of Birmingham
Krishna Gokhale - Collaborator - University of Birmingham
HES Admitted Patient Care;ONS Death Registration Data;Patient Level Index of Multiple Deprivation;Practice Level Index of Multiple Deprivation