Hereditary spastic paraplegia 53
Hereditary spastic paraplegia 53
Definition
A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in VPS37A, autosomal recessive spastic paraplegia type 53, hereditary spastic paraplegia 53, hereditary spastic paraplegia type 53, SPG53, VPS37A autosomal recessive complex spastic paraplegia — per MONDO