Families

Clinical features
People with changes in the UBAP1 gene usually develop stiffness and weakness in their legs, causing difficulties with walking. Symptoms often begin in childhood or adolescenceand slowly get worse with time.

Other possible symptoms include: muscle tightness (spasticity), trouble walking or keeping balance, brisk deep-tendon reflexes, bladder urgency in some cases

Prevalence
This condition is extremely rare, with only a few dozen families known worldwide.

Inheritance
The condition is autosomal dominant, meaning that one changed copy of the UBAP1 gene is enough to cause the disease. A parent with the condition has a 50% chanceof passing it on to their children.