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