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