hereditary spastic paraplegia 86

A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound het

A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.

Signs and symptoms

• Inability to walk
• Absent speech
• Global developmental delay
• Periventricular white matter hyperintensities
• Thin corpus callosum
• Spastic paraplegia
• Intellectual disability
• Hyperreflexia
• Distal muscle weakness
• Babinski sign

Also known as: SPG86; spastic paraplegia 86 autosomal recessive