Families

Spastic paraplegia 45 (SPG45) is a rare, inherited neurodegenerative disorder characterized by progressive stiffness and weakness in the lower limbs, leading to an abnormal gait. It is caused by mutations in the NT5C2gene and inherited in an autosomal recessive pattern, meaning both parents carry a copy of the mutated gene but are usually unaffected. Symptoms include muscle spasms, balance difficulties, increased reflexes, and toe-dragging, and can be associated with intellectual disability, contractures, and visual problems. Treatment focuses on managing symptoms with physical therapy, oral medications, and other therapies to improve strength, flexibility, and gait.