CLN5

Clinical Characteristics

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.