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