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Neuromuscular diseases

Hereditary spastic paraplegia (HSP)

A group of inherited diseases that cause weakness and stiffness in the leg muscles. Symptoms increase slowly over the years.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The long nerve pathways in the spinal cord break down over time. These pathways control muscle tension and movement in the legs. This is why stiffness and weakness develop in the legs. Many different genes can cause the disease.

Which symptoms can occur?

In about 90% of people, the pure type is seen, which affects only the legs. In the complex type, other symptoms are added.

  • Slowly increasing weakness in the legs
  • Muscle stiffness in the legs, called spasticity
  • Tripping and falling, especially on uneven ground
  • A frequent and sudden need to urinate
  • Reduced feeling in the feet (sometimes)
  • Tiredness, back and knee pain
  • In the complex type, problems with balance, speech, vision or hearing

How is it diagnosed?

The diagnosis is made with a detailed examination and the typical symptoms. An MRI of the brain and spinal cord may be done to rule out similar diseases such as MS. In some cases, a genetic test is done.

Treatment and care

There is not yet a treatment that stops or reverses the disease. The symptoms, however, can be managed. Regular physiotherapy helps preserve muscle strength and joint movement. Medicines and injection treatments that reduce muscle stiffness can be used. Orthoses, splints and insoles make walking easier. Rarely, surgery may be needed to release shortened muscles. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The pattern of inheritance depends on the type. In the pure type, the faulty gene usually comes from one of the parents. In this case, for each child of an affected parent, the chance is 1 in 2. In the complex type, the gene usually comes from both parents. In this case, for a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Genetic counselling helps the family understand the risk.

Source: NHS: Hereditary spastic paraplegia · Orphanet: Hereditary spastic paraplegia (ORPHA:685)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
When does it usually start?
Any age
Reliable sources
Orphanet

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about HSP

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 12 active interventional studies for this disease. 9 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:685 · ICD-11 8B44.0

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.