Other features of the condition include difficulty coordinating movements (ataxia), speech problems, and a decline in intellectual function.
Additional features include:
Central Nervous System
• Global developmental delay, moderate to profound
• Impaired intellectual development, moderate to profound
• Neurodegeneration
• Speech and language delay
• Absent speech
• Delayed walking
• Ataxic gait
• Abnormal gait
• Broad-based gait
• Speech and language delay
• Unsteady gait
• Foot drop
• Spasticity (in some patients)
• Seizures (myoclonic or generalized tonic-clonic) (in some patients)
• Nonspecific findings seen on brain imaging (in some patients)
• Cerebral atrophy
• Thin corpus callosum
• Delayed myelination
• Decreased white matter volume
• Hypertonia
• Hyperreflexia
• Tremor
• Dysarthria
Peripheral Nervous System
• Demyelinating sensorimotor (peripheral) neuropathy
• Impaired distal sensation
• Hyporeflexia
• Distal sensory loss
Behavioral Psychiatric Manifestations
• Stereotypic behavior