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