Infantile PLAN symptoms usually start in infancy, progress fairly rapidly and include:
• Loss of muscle control
• Delay and/or regression of walking and other skills
• Low muscle tone in trunk and later tightness (spasticity) in the arms and legs
• Eye issues such as crossed eyes or deterioration of the optic nerve
• Difficulty with speech, eating, chewing and choking
• Seizures as the disease progresses
• Cognitive decline as the disease progresses
Juvenile PLAN symptoms start in childhood, progress more slowly, and include:
• Delay or regression of movements and skills like walking
• Delay in speech or autistic features
• Uncontrolled muscle movements
• Difficulty with feeding and swallowing
• Stiff muscles
• Joint contractures
• Deterioration of the optic nerve
• Seizures, rarely
Adult PLAN starts in late teens-early adulthood, progress more slowly than in INAD and include:
• Parkinsonism – tremors, stiffness, loss of balance, decreased muscle movement
• Gait disturbance – shuffling, freezing or getting stuck when walking
• Uncontrolled muscle movements
• Regression of speech
• Cognitive regression
• Depression, personality change, aggression, delusions, or paranoia
PLA2G6