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
|
Global development delay
Muscle weakness Spasticity Delayed cognitive development Seizures (interictal) -Spasticity (interictal) -Hypertonia (ictal) Dysarthria Cognitive impairment (interictal) Muscle weakness (interictal) Cognitive impairment Muscular hypotonia Seizures Muscular hypotonia (interictal) Dysarthria (interictal) Show more (+12) |
Muscular hypotonia
|
|
No
|
♂
|
C
|
n.a.
|
7
|
8
|
No
|
Muscle weakness (interictal)
Seizures (interictal) -Dystonia (ictal) Seizures Muscle weakness Dystonia (any or unspecified) Show more (+3) |
Seizures
|