Hereditary spastic paraplegia (HSP) is a group of inherited disorders in which the longest nerve fibres of the spinal cord slowly degenerate, producing stiffness and weakness of the legs. More than 80 genetic types are known.
It progresses slowly over decades and life expectancy is usually normal in pure forms. There is no treatment that stops it, so care focuses on spasticity, mobility and bladder symptoms.
Symptoms
- Stiff, tight legs and a scissoring gait
- Tripping and dragging of the toes
- Leg weakness, worse after walking distances
- Urinary urgency
- Muscle spasms and cramps
- High-arched feet
- In complicated forms: neuropathy, ataxia, learning or vision problems
Causes and risk factors
HSP is caused by faults in single genes. SPG4 (spastin) is the commonest and is autosomal dominant, so each child has a one in two chance of inheriting it. Other types are recessive or X-linked, and recessive types are seen more often where cousin marriage is common. Onset ranges from early childhood to late adult life, even within one family.
How it is diagnosed
- Neurological examination and family history: Show spasticity out of proportion to weakness.
- MRI of brain and spine: Excludes compression, MS and other mimics; may show a thin spinal cord or thin corpus callosum.
- Genetic panel or exome sequencing: Confirms the type in roughly half to two thirds of families.
- Blood tests: Exclude B12 and copper deficiency, HTLV-1 infection and treatable metabolic mimics such as dopa-responsive dystonia.
Treatment options
- Physiotherapy and daily stretching: The mainstay, preserving range of movement and walking.
- Antispasticity medication: Baclofen or tizanidine, balanced against added weakness.
- Botulinum toxin injections: For focal tightness in calf or thigh muscles, repeated every 3 to 4 months.
- Intrathecal baclofen pump: For severe spasticity not controlled by tablets.
- Orthoses and walking aids: Ankle-foot orthoses or functional electrical stimulation for foot drop.
- Bladder treatment: Anticholinergic drugs or bladder botulinum toxin.
When it is urgent
HSP does not cause sudden change. Rapid worsening over days or weeks, new numbness with a level on the trunk, or urinary retention suggests another cause such as cord compression and needs urgent local assessment.
Travelling to Türkiye for treatment
Genetic testing, a gait analysis and a spasticity plan can be completed in a short visit, and an intensive physiotherapy block is reasonable. Botulinum toxin and pump refills recur every few months and belong with a local team. No stem cell or gene therapy is established for HSP.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
الأسئلة المتكررة
Will I end up in a wheelchair?
Many people with pure HSP walk throughout life, often with aids. It varies by gene and by individual.
Should my children be tested?
Testing children without symptoms is generally discouraged. Genetic counselling helps families decide.
Does exercise make it worse?
No. Regular stretching and activity are beneficial; fatigue simply means pacing is needed.