Main clinical features of PEBEL2
Children with PEBEL2 are generally born healthy. PEBEL2 is commonly triggered by illness, fever, infection or trauma/ injury.
Children will commonly have one of two types of clinical presentations:
• “Combined Cyto + Mito NAXD”
o This is the more common and more severe clinical presentation.
o Neurological deterioration or decline, progressing rapidly.
o Lack of muscle co-ordination (ataxia)
o low muscle tone with floppiness (hypotonia), poor head control, shallow breathing, loss of speech and feeding are common symptoms
o Skin blisters or burn-like rashes, particularly in areas of high movement or friction such as arm folds, neck, buttocks, fingers.
o Seizures or fits
The majority of cases are fatal.
• “Mito NAXD”
o This is a less common clinical presentation and there are less reported cases, so our understanding of the clinical phenotype is still being developed.
o Heart problems including elevated heart rate (tachycardia), enlarged heart chambers (dilated cardiomyopathy), thickening of the heart walls (hypertrophic cardiomyopathy) or inflamed heart muscle (myocarditis).
o Muscle weakness
o Numbness or pain (neuropathy).
These individuals generally don’t present with neurological deterioration, skin blisters or seizures.
These individuals may have a slower and less aggressive disease.