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
|
Ptosis
Ataxia Dysarthria (ictal) Hemiplegia Muscle weakness (interictal) Ataxia (ictal) Seizures Vomiting (ictal) -Hypertonia (ictal) Ataxia (interictal) Dysarthria Seizures (ictal) Muscle weakness Muscular hypotonia Vomiting Show more (+12) |
Ataxia
|