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Hereditary Spastic Paraplegia (Neurology)

A genetic, progressive corticospinal tract degeneration disease.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Hereditary Spastic Paraplegia (Neurology)?

Hereditary spastic paraplegia (HSP) is a group of genetic neurological diseases characterized by progressive corticospinal tract degeneration. More than 80 different gene loci have been identified (SPG1-SPG83). Inheritance can be autosomal dominant, autosomal recessive, X-linked or mitochondrial.

Pure (uncomplicated) HSP shows isolated lower-extremity spasticity and weakness; complicated HSP additionally has cognitive impairment, ataxia, peripheral neuropathy, optic atrophy, retinopathy or epilepsy. SPG4 (spastin) is the most common autosomal dominant form.

Diagnosis is supported by family history, clinical examination, MRI (corpus callosum thinning), nerve conduction studies, and gene panels (NGS). There is no specific treatment; symptomatic therapy targets antispastic drugs (baclofen, tizanidine, botulinum toxin), physical therapy and rehabilitation.

Symptoms

Progressive lower-extremity spasticity
Lower-extremity weakness and stiffness
Spastic gait disturbance
Hyperreflexia and Babinski sign
Bladder dysfunction
Slight upper-extremity involvement

Risk Factors

Family history (HSP)
Consanguineous marriage
Genetic mutation (SPG4, SPG11)
Autosomal dominant transmission
Childhood/adult onset
Increased risk in specific ethnic groups

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Progressive gait disturbance and stiffness
  • Family history (similar findings)
  • Lower-extremity weakness
  • Bladder dysfunction (urinary incontinence)
  • Slow progressive worsening
  • Cognitive impairment (in complicated forms)

Treatment Methods

01
Antispastic drugs (baclofen, tizanidine)
02
Botulinum toxin (focal spasticity)
03
Intrathecal baclofen pump (severe cases)
04
Physical therapy and rehabilitation
05
Bladder management (oxybutynin, intermittent catheterization)
06
Genetic counseling and gene panel testing

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.