Spastic paraplegia type 49 is an inherited genetic disorder characterized by progressive muscle stiffness (spasticity) along with the development of paralysis of the lower limbs (paraplegia).
The first symptom of spastic paraplegia type 49 is typically weak muscle tone (hypotonia) that starts in infancy. The spasticity and paraplegia gradually worsen over time during childhood, leading to difficulty walking and frequent falls. Affected individuals may also have intellectual disability and distinctive physical features, including short stature, chubbiness, and smaller head size (microcephaly). There is currently no specific treatment to prevent or reverse progressive disability in patients with spastic paraplegia.
This condition is caused by pathogenic (disease-causing) variants in the TECPR2 gene. Additionally, spastic paraplegia type 49 exhibits autosomal recessive inheritance, meaning both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish- Bukharian descent have a carrier frequency of 1 in 38. Carriers do not typically show any signs or symptoms of the condition.