Magner, 2011: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
15
|
No
|
-Spasticity (interictal)
Dysarthria Global development delay Cognitive impairment (interictal) Cognitive impairment Delayed cognitive development Seizures Seizures (interictal) Muscular hypotonia -Hypertonia (ictal) Muscle weakness Muscular hypotonia (interictal) Dysarthria (interictal) Muscle weakness (interictal) Spasticity Show more (+12) |
Muscular hypotonia
|
|
No
|
♂
|
C
|
n.a.
|
7
|
8
|
No
|
Dystonia (any or unspecified)
Muscle weakness Muscle weakness (interictal) Seizures Seizures (interictal) -Dystonia (ictal) Show more (+3) |
Seizures
|