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.
What Causes SPG4?
SPG4 Hereditary Spastic Paraplegia is caused by a gene mutation. Gene mutations are small errors in our DNA that can cause big problems. Patients with SPG4 have a mutation in a gene called SPAST, which helps motor neurons function properly in the brain and spinal cord.
The age at which symptoms first develop can range from infancy to late adulthood. Patients often start out without any signs of disease, but they then begin to notice a steady decline in their ability to run, jump, and walk.
You Can Help Find a Cure
There is currently no cure for SPG4 Hereditary Spastic Paraplegia, and the only
currently-available treatments do little to nothing to stop the progression of the disease. SPG4 is progressive and unpredictable. It can lead to the loss of the ability to walk and leads to severe pain from spasticity. Because the disease is so rare, there is less incentive for companies to devote money towards researching the disease and its cure. Therefore, it is critical for affected individuals, their families, and generous donors to help fund the research necessary to help find a cure.
A Rare Disease Without a 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