Asencio, 2016: 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
9
No
Ataxia (ictal)
Muscle weakness (interictal)
Dysarthria
-Hypertonia (ictal)
Vomiting
Muscular hypotonia
Seizures (ictal)
Dysarthria (ictal)
Ataxia
Hemiplegia
Ptosis
Vomiting (ictal)
Seizures
Ataxia (interictal)
Muscle weakness
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Ataxia