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