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