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