Debray, 2008: 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.
|
1
|
20
|
Yes
|
Seizures (interictal)
-Spasticity (ictal) Headache -Gait ataxia (ictal) Gait ataxia Respiratory distress Ataxia Seizures -Spasticity (interictal) -Tremor (interictal) Ataxia (interictal) Tremor (any or unspecified) -Hemiplegia (interictal) Dysarthria (interictal) Dysarthria Headache (ictal) -Gait ataxia (interictal) Hemiplegia Ataxia (ictal) Dysphagia Spasticity Show more (+18) |
Ataxia
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
21
|
Yes
|
Ataxia
Seizures Global development delay -Tremor (interictal) Spasticity Ataxia (ictal) -Spasticity (ictal) Respiratory distress Cognitive impairment (interictal) Dysarthria (interictal) Seizures (interictal) -Spasticity (interictal) Cognitive impairment Dysarthria Tremor (any or unspecified) Show more (+12) |
Ataxia
|