/hereditary spastic paraplegia 53

hereditary spastic paraplegia 53

Rare Disease

MONDO:0013962

Also Known As

SPG53VPS37A autosomal recessive complex spastic paraplegiaautosomal recessive complex spastic paraplegia caused by mutation in VPS37Aautosomal recessive spastic paraplegia 53autosomal recessive spastic paraplegia type 53hereditary spastic paraplegia 53hereditary spastic paraplegia type 53spastic paraplegia 53, autosomal recessive

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.