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