SPG 4 Denovo

“Navigating De Novo SPG4 Together.”

Category: Uncategorized

  • Talk to Your Physical Therapist – Why SPG4 Needs Focused PT

    When it comes to treating spasticity in SPG4, it’s not just about any physical therapy. It’s about a highly specific approach that focuses on opposing muscle groups and maintaining muscle length. Why Specificity and Muscle Length Matter SPG4 often leads to muscle imbalances that cause certain muscles to become overly tight while their opposing muscles…

  • Individuation and Rare Parenting

    Becoming Ourselves While Raising Someone Rare What Is Individuation? Individuation is becoming your truest self—not just the version shaped by roles or expectations, but the version formed when all the pieces of your identity align. In rare parenting, it can feel like we disappear into caregiving. We become researchers, therapists, advocates, protectors. Somewhere in all…

  • A Double Hit

    When the Gardener Stops Pruning: An Analogy for SPG4 Imagine your nervous system as a sprawling garden. The garden paths are microtubules—those long cellular highways that transport everything a neuron needs. These paths must be meticulously maintained. Enter SPASTIN, the gardener whose job is to prune these microtubules so they remain healthy, dynamic, and uncluttered.…

  • New Resource Available

    There is a comprehensive review of DeNovo HSP SPG4 available on the Lilly and Blair Foundation website. Written by a lay-person, it details the disease and the steps being made to find a cure. Only 20 pages long it is well worth the time. Visit The Lilly and Blair Foundation to download a copy.

  • Therapy and Treatments

    When someone has HSP SPG4 De Novo, they’re facing a unique challenge. Their nervous system isn’t working quite the way it’s supposed to, especially in the parts that control leg movement and walking. Over time, this can lead to muscle stiffness (spasticity), weakness, balance issues, fatigue, and sometimes pain. While there’s no cure yet, there’s…

  • Research Update

    Recent Advances in SPG4 Treatment Research: A Glimmer of Hope July 2025 Gene Therapy: A Promising Approach One of the most significant advancements in SPG4 research is the development of gene therapy aimed at correcting the underlying genetic mutation. In July 2024, the Lilly and Blair Foundation co-funded a gene therapy project involving multiple institutions,…

  • Hereditary Spastic Paraplegia (SPG4 Denovo Arg499His) Welcome to SPG4together — a dedicated space for families and individuals affected by Hereditary Spastic Paraplegia (HSP) due to the Arg499His mutation in the SPAST gene. This rare genetic variant, located on chromosome 2p22, is often poorly understood and underrepresented in broader HSP resources. This site exists to offer…