Spastic paraplegia type 5A

Spastic paraplegia type 5A belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and severe weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve spasticity and weakness only in the lower limbs, while the complex types involve additional problems with other areas of the body. Additional features can include changes in vision, changes in intellectual functioning, brain abnormalities, and disturbances in nerve function (neuropathy). Spastic paraplegia type 5A is usually classified as a pure hereditary spastic paraplegia, although complex-type features have been reported in some individuals.

The signs and symptoms of spastic paraplegia type 5A usually appear in adolescence, but they can begin at any time between infancy and mid-adulthood. In addition to spasticity and weakness, people with spastic paraplegia type 5A can lose the ability to sense the position of their limbs or detect vibrations with their lower limbs. They may also have muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus). Some affected individuals have low bone density (osteopenia) or vitamin D deficiency. Affected individuals eventually require walking support, usually around 20 years after symptoms begin, or wheelchair assistance, around 30 years after symptoms begin.