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