hereditary spastic paraplegia 84

A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in th

A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.

Signs and symptoms

• Hypertonia
• Lower limb muscle weakness
• Frequent falls
• Hyperreflexia
• Cervical spinal cord atrophy
• Ankle clonus
• Spastic paraplegia
• Leg muscle stiffness
• Hip contracture
• Cognitive impairment

Also known as: SPG84; spastic paraplegia 84 autosomal recessive