Spastic paraplegia 31

OMIM number: 610250

Comments closing date: 24/10/2025

Spastic paraplegia 31 is a hereditary (genetic) condition which affects the way the nerves communicate with the muscles. This leads to specific nerves degenerating over time, which leads to symptoms such as muscle stiffness (spasticity), muscle weakness, and paralysis. This subtype of the condition mostly affects the lower limbs, but a few cases have been reported where the upper limbs and brain have also been impacted. The most common feature of the condition is difficulty walking due to spasticity and lower limb muscle weakness, and this tends to progress over time. The average age of onset is before the 20’s, but this can be variable even in the same family. The severity can also vary from seemingly asymptomatic, to a more complex condition involving all limbs, reduced bladder control, and significantly impaired gait. There is no cure for this condition. Individuals might require walking support particularly as the condition progresses with age, and other physical accommodations can help support an individual on a day to day basis. Wheelchair use could be required from a relatively young age. The condition is caused by a pathogenic variant (also called a mutation) in a gene called REEP1. This gene produces a protein which is thought to help the nerve cells process and transport other proteins. If a person has spastic paraplegia 31, their body might not be able to produce energy as efficiently as other people, but the exact mechanism of disease isn’t entirely clear. If a person has spastic paraplegia 31, there is a 1 in 2 chance of passing the condition on at each conception.

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