Hereditary Spastic Paraplegia
Overview
Hereditary spastic paraplegia (HSP) is a rare genetic condition marked by a group of inherited degenerative complications in the brain and spinal cord. Specifically, nerve cells in the brain and spinal cord are damaged and deteriorate, interfering with the delivery of messages from the nervous system. HSP may be divided into more than 80 different types.
Types
- Uncomplicated/pure HSP. This form of HSP only impacts the lower body, causing spasticity, or enhanced muscle tone and stiffness, as well as weakness in the legs.
- Complicated or complex. In this form of HSP, mutations of various genes may cause a variety of different symptoms, including cognitive challenges, deafness, epilepsy and vision problems.
Symptoms
Each person with HSP may experience different symptoms depending on which nerves are impacted by the condition.
- Ataxia, the inability to control muscles that may cause lack of balance and coordination, as well as difficulty walking
- Cognitive challenges, such as difficulty processing information or remembering things
- Deafness
- Epilepsy, which is characterized by periods of involuntary movement known as seizures
- Frequent urination and/or urgency
- Leg weakness
- Peripheral neuropathy, which includes complications that accompany nerve damage, including numbness and pain in the limbs
- Spasticity, characterized by excessive muscle tone and stiffness in the legs
- Vision problems
Prevention
- Because HSP is inherited, preventing the condition is not possible.
Risk Factors
HPS is a genetic condition, so patients are at risk if their parents passed along the genetic mutation.
Diagnosis
Medical history and symptom review. A provider will review family history to look for patterns of gene mutations and will also examine clinical symptoms of the condition. The provider will also rule out other possible causes of leg spasticity and weakness.
Neurologic examination. The doctor will look for signs that nerve paths linking the brain and the spinal cord, otherwise known as the corticospinal tract, are damaged. These may include difficulty feeling vibrations in the lower portion of the legs, overly active reflexes and urinary incontinence.
Gene mutation identification. A provider may perform a test to confirm the presence of a mutated gene causing HSP.
Treatment
No specific treatments cure HSP. However, different therapies may help manage symptoms when living with this condition, such as:
- Medications to address incontinence and spasticity
- Physical therapy to enhance balance, flexibility and strength
Follow-up Care
Because there is currently no cure for HSP, patients with the condition will regularly follow up with a physician. The physician will monitor symptom progression and recommend medication and physical therapy as necessary.
Why Choose UK HealthCare for Neuromuscular Disorders?
If you or a loved one is living with a neuromuscular disorder, neuromuscular doctors with Kentucky Neuroscience Institute can offer the latest and most sophisticated care options. UK HealthCare’s ALS Multidisciplinary Clinic earned accreditation as a Certified Treatment Center of Excellence from the ALS Association. This honor is awarded to facilities that demonstrate competency meeting the clinical care and treatment standards set forth by the ALS Association. These facilities must also take part in ALS research and a comprehensive site review.
Additionally, the Kentucky Neuroscience Institute is ranked 44th in the country by U.S. News & World Report, and our physicians are regularly named to the Best Doctors in America List.