Other features of the condition include recurrent seizures that involve uncontrollable spasms (epilepsy), difficulty coordinating movements (ataxia), speech problems, and a decline in intellectual function.
Additional features include:
Central Nervous System
• Global developmental delay
• Impaired intellectual development
• Delayed walking
• Ataxia
• Lack of motor development
• No purposeful movements
• Cerebellar ataxia
• Dysarthria
• Dysmetria
• Dysdiadochokinesis
• Intention tremor
• Hyperreflexia
• Myoclonic jerks
• Seizures (1 patient)
• Extensor plantar responses
• Cerebellar atrophy (in some patients)
• Impaired myelination
Peripheral Nervous System
• Demyelinating sensorimotor polyneuropathy (in some patients)
• Decreased nerve conduction velocities
• Hyporeflexia
Behavioral Psychiatric Manifestations
• Aggression
• Anxiety