What are the main signs and symptoms?
Children with the classic (severe) form of PLAA-related disorder typically show signs within the first few months of life. The main features include:
• Small head (microcephaly): The head may be a normal at birth but grows more slowly than expected over time.
• Delayed development: Children have significant delays in reaching milestones such as holding up their head, sitting, or speaking. Many children are severely affected and may not achieve these milestones.
• Muscle stiffness and weakness:The body may feel floppy (low muscle tone in the trunk) while the arms and legs become stiff and tight (spasticity).
• Seizures (epilepsy): Most children develop seizures, which can be difficult to control with medication.
• Feeding difficulties: Many children have trouble swallowing and feeding, and may need special support such as a feeding tube.
• Poor growth:Weight, height, and head are often well below average.
• Brain changes on MRI: Brain scans typically show problems with the white matter (the "wiring" of the brain) and extra fluid around the brain.
• Other possible features:Some children may have unusual facial features, abnormal movements, chest or foot shape differences, or difficulty with vision.
When do symptoms start?
Symptoms usually appear between birth and 4 months of age.
What is the outlook?
The outlook depends on where exactly the gene change is located:
• Some mutations cause a very severe form, with symptoms starting at birth and a shortened lifespan in infancy or early childhood.
• Other mutations cause a somewhat less severe form, and some individuals have survived into their teenage years or even into their 30s.
PLAA