Okajima, 2006: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
7
n.a.
Spasticity
Global development delay
Seizures (ictal)
Fatigue
Microcephaly
Cognitive impairment (interictal)
Muscular hypotonia
Cognitive impairment
Delayed cognitive development
Tremor (any or unspecified)
Seizures
Show more (+8)
n.a.