Spastic paraplegia-severe developmental delay-epilepsy syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Synonyms: SPPRS syndrome | Spastic paraplegia-psychomotor retardation-seizures syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare genetic complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition associated with seizures (mostly myoclonic) muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia hypogenitalism macrocephaly and sensorineural hearing loss as well as dystonic movements and ataxia with upper limb involvement.