Authors: Michelle R. Christie, MD; Linsley Smith, RN, BSN 
Scottish Rite for Children – Dallas, Texas 
 
Reviewed: April 2021 

SUMMARY

Hereditary Spastic Paraparesis/Paraplegia (HSP) causes difficulty walking. In HSP, a person has tight and weak muscles. These tight muscles are also called spastic muscles. This is how the disorder gets its name. 

When learning about HSP you will see the terms “Paraplegia” and “Paraparesis” since there is a wide range of symptoms in patients who have HSP. 

• Paraplegia means severe weakness in both legs including paralysis 
• Paraparesis indicates weakness in both legs of lesser severity than paraplegia. 

There are two types of HSP. The first is called uncomplicated, or pure, HSP. The second is called complicated HSP. The uncomplicated form includes tight and weak muscles as well as difficulty with urination. The complicated form has additional symptoms. These can include seizures and intellectual disability.  

Symptoms can start at any time.  

HSP is a genetic disorder. It can be caused by a mutation in any of a large number of genes. 

Disorder Overview

DESCRIPTION 

HSP causes the connections between the spine and the brain to develop abnormally. Therefore, messages from the brain become weakened. They cannot tell the body how to move. HSP is a rare disease. It affects only about 0.007% of people worldwide.  

Symptoms of HSP can range from very mild to severe. The amount of muscle weakness a child experiences can vary. Some will have no weakness, or full strength. Others will have severe weakness, or paraplegia. Types of symptoms and their severity can even differ between family members with the same genetic mutation.  

The symptoms of HSP may worsen over time. Individuals with severe symptoms may lose the ability to walk independently.   

HSP is not life threatening.  

SIGNS AND SYMPTOMS  

CAUSES 

HSP occurs due to gene mutations. Two gene mutations are most often responsible when HSP begins in childhood. These are mutations in the SPG3A and SPG4 genes. However, over 80 genes are known to affect HSP. 

A doctor can provide more specific information about the genetics behind HSP. The doctor may refer a child’s family to a genetic counselor or medical geneticist. Sometimes, the gene mutation causing HSP cannot be identified with today’s genetic knowledge.  

 LABORATORY INVESTIGATIONS  

Two kinds of laboratory investigations are most useful in HSP. These are genetic testing and brain and spine imaging. 

TREATMENT AND THERAPIES  

Treatment plans are guided by the symptoms of HSP. Some children may not require treatment. These children may be monitored by neurologist on a yearly basis depending on their symptoms.  

Possible treatments include: 

• Medications, to help with muscle tightness and pain 
• Custom-designed shoe inserts and braces 
• Physical and occupational therapy, to help with motor skills and function 
• Speech therapy, to help with cognitive and language skills 
• Wheelchairs, walkers, and other mobility equipment  
• Surgery 
• Individual and family counseling 
• Accommodations for school 
• Antiseizure medications if seizures are present 

OUTLOOK  

There is currently no cure for HSP. However, there are many treatments for the symptoms.  

Research 

ClincalTrials.gov for Hereditary Spastic Paraplegia are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently.  

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.   

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.  

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 

Hedera P. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. https://www.ncbi.nlm.nih.gov/books/NBK1509/