Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, speech problems, and a decline in intellectual function.
Additional features include:
• Clumsiness
• Motor deterioration
• Developmental regression
• Ataxia
• Dysarthria (1 family)
• Dysmetria (1 family)
• Dysdiadochokinesis (1 family)
• Seizures
• Myoclonus
• Mental retardation
• Cognitive impairment (1 family)
• Neurophysiologic abnormalities (EEG, VEP, SEP)
• Characteristic findings on MRI
• Autofluorescent lipopigment in neurons
• Cerebellar atrophy (1 family)
• Concentration difficulties
The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
CLN5