What is SPG4?
SPG4 is the most common subtype of a group of rare neurologic disorders called HSP, or Hereditary Spastic Paraplegia. The primary symptom of HSP is difficulty walking due to muscle weakness and tightness (spasticity) in the legs. The severity of symptoms usually worsens over time.
A foundation committed to finding a cure
for a rare neurologic disease called
SPG4 Hereditary Spastic Paraplegia.
Who We Are
Cure SPG4 Foundation was founded in 2020 by two families with young children who were diagnosed with SPG4 Hereditary Spastic Paraplegia.
Our mission is to increase awareness of SPG4 Hereditary Spastic Paraplegia, provide a resource for patients and their families, and fund research to find a cure for SPG4 Hereditary Spastic Paraplegia.
A Rare Disease Without a Cure
SPG4 Hereditary Spastic Paraplegia is a rare disease, affecting less than 0.01% of the population. Because the disease is so rare, there is less incentive for companies to devote money towards researching the disease and its cure.
Genetic Types of HSP
There are approximately 80 known genetic variants of hereditary spastic paraplegia. SPG4 is the most common subtype. In patients with HSP, there is variability in the severity of leg weakness, the degree of limb spasticity, and the presence of other neurologic symptoms. Patients may be only minimally affected, or they may be completely disabled. Typically, the symptoms get worse over time.
A Rare Disease
SPG4 Hereditary Spastic Paraplegia is a rare disease, affecting less than 0.01% of the population. However, It affects males and females of all ages and ethnic groups from around the world. Because the disease is so rare, it is critical for affected individuals, their families, and generous donors to help fund research to help find a cure for those diagnosed with SPG4.
The Inheritance Pattern
SPG4 is typically inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disease. It is most common for SPG4 to be inherited from one affected parent, however, the mutation can also occur "de novo. " In de novo mutations, the gene randomly mutates during embryonic development and is not inherited from a parent.
Source: National Organization for Rare Disorders
You can help find a cure today.
It is critical for affected individuals, their families, and generous donors to help fund the research necessary to help find a cure. Through the generosity of selfless donors, we can help thousands of deserving children, adults, and their families that have been devastated by SPG4 Hereditary Spastic Paraplegia.