PMD type | |||
---|---|---|---|
Symptoms | Connatal | Classic | Patient |
BAER, brainstem auditory evoked responses; NMR, nuclear magnetic resonance; VEP, visual evoked potential. | |||
Nystagmus | + | + | − |
Stridor | + | + | − |
“Head bobbing” | + | + | − |
Developmental delay | + | + | + |
Developmental deterioration | ∼3 months | ∼4 years | ∼10 years |
Optic atrophy | + | + | + |
Extrapyramidal movements | + | + | +/− |
Spasticity | + | + | + |
Ataxia | + | + | + |
Epilepsy | +/− | − | + |
VEP | Abnormal | Abnormal | Abnormal |
BAER | Abnormal | Abnormal | Abnormal |
NMR | Severe dysmyelination, progressive cortical atrophy | Severe dysmyelination, progressive cortical atrophy | Severe dysmyelination, no cortical atrophy |