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