This panel consists of 79 genes associated with hereditary spastic paraplegia, or HSP, which refers to a group of disorders associated with increased muscle tone, stiffness, and weakness in the lower extremities. In uncomplicated, also known as pure, spastic paraplegia, loss of sensation and overactive bladder may occur. Additional features including intellectual disability, gait abnormalities, seizures, dementia, and peripheral neuropathy, have been reported in cases that are considered to be complicated. The upper extremities are usually spared of symptoms. The prevalence of HSP is approximately 3 in 100,000, and an estimated 10% of patients have complicated HSP with additional clinical features.
These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked dominant and recessive patterns, and each type exhibits variable clinical presentation, age of onset, degree of severity, and disease progression. Lifespan is typically unaffected.
List of Genes and Conditions