Giribaldi, 2012: 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.
3
12
n.a.
Dysphagia
-Gait ataxia (ictal)
Ataxia
Gait ataxia
-Muscle weakness (ictal)
Muscle weakness (interictal)
Muscle weakness
Ataxia (ictal)
Show more (+5)
Ataxia
Muscle weakness