FAQ for Families

SPG76 (hereditary spastic paraplegia type 76) is an ultra-rare genetic condition caused by mutations in both copies of the CAPN1 gene. It mainly causes stiffness and weakness in the legs and difficulty walking, often with problems of balance and coordination. There are approximately 100 confirmed cases worldwide, with many more suspected undiagnosed. More about SPG76.

No. SPG76 is recessive: it happens when both copies of the CAPN1 gene — one inherited from each parent — carry a disease-causing change. People with one changed copy are carriers and are usually unaffected. If a genetic test report mentions CAPN1, your neurologist or a genetics doctor can explain what it means for you.

Through genetic testing, most often whole exome sequencing. Because the condition is so rare, reaching a diagnosis can take years.

It varies a lot from person to person, and in many people it progresses slowly, over years. If your symptoms change quickly, tell your doctor — something else may be contributing.

Not yet. There is no approved treatment that targets the cause of SPG76, and no one can say when there will be one. Your care team can help with symptoms such as stiffness and walking difficulty.

Researchers in the United States, Canada and Brazil are working on three paths: mapping how SPG76 progresses, protecting nerve cells, and replacing the missing gene. This is early-stage laboratory research, and no one can say when there will be a treatment. The goal is a treatment that slows or halts the progression of SPG76. Early laboratory studies also suggest that some lost function might improve; whether that is possible in people is one of the questions this research will answer. Read about our work.

Yes. Dr. Ziv Gan-Or's SPG76 natural history study works through your own neurologist: download the one-page note and give it to them. Separately, SP-CERN, a US research network for hereditary spastic paraplegia, runs its own natural history study. Email spcern@childrens.harvard.edu to ask about it, including if you live outside the US, or find an SP-CERN clinical site. Join the SPG76 Patient Network to hear about other ways to take part.

• What does my genetic test report say about CAPN1 — is the change in one copy or both, and how is it classified?
• Could anything else be adding to my symptoms?
• Would physical therapy or other support help me now?
• Is there a research study I could join, such as SP-CERN's?

No. The foundation is not a medical provider and cannot advise on diagnosis or treatment. Please talk with your own doctor about your care.

The Patient Network Form asks for your name, email address and country; it does not ask for medical information. We use it to keep in touch, share research news and tell you about research you may be able to take part in. We will never share your personal information without your explicit consent. Read our Privacy Policy.

The SPG76 Research Foundation was founded in 2026 by Omar Alnuaimi, a patient advocate who lives with SPG76. It is governed by a patient-led board of directors. Read Omar's story.

Yes. SPG76 Research Foundation, NFP is a tax-exempt public charity under Section 501(c)(3) of the Internal Revenue Code (EIN 42-4119137). Contributions are tax-deductible to the extent allowed by law. How to donate.

Email contact@spg76research.org. We reply to every message.