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