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Spastic paraplegia-severe developmental delay-epilepsy syndrome

MONDO:0014764

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.

Also known as: SPPRS syndrome, spastic paraplegia-psychomotor retardation-seizures syndrome, SPPRS, spastic paraplegia and psychomotor retardation with or without seizures

9 clinical trials for this condition and its sub-types, 0 tagged with Spastic paraplegia-severe developmental delay-epilepsy syndrome itself.

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↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Monogenic epilepsy (12) ↑ Complex hereditary spastic paraplegia (7)
Including sub-types (9) Tagged with Spastic paraplegia-severe developmental delay-epilepsy syndrome (0)
Trials to join now! 6 Not yet finished but already full! 2 Completed 1
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