Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Synonyms: Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs hyperreflexia tip-toe walking pes equinus and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability language impairment and moderate upper limb involvement.