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