Barnerias, 2010: 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.
|
0
|
7
|
n.a.
|
Muscular hypotonia (interictal)
Delayed cognitive development Seizures Cognitive impairment Ataxia Muscular hypotonia Global development delay Ataxia (ictal) Show more (+5) |
Muscular hypotonia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
15
|
n.a.
|
Seizures
Delayed cognitive development Dystonia (any or unspecified) Microcephaly Global development delay Visual disturbance Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Ataxia
Dystonia (any or unspecified) Delayed cognitive development Seizures Ataxia (ictal) Cognitive impairment Global development delay Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
2
|
n.a.
|
Delayed cognitive development
Ataxia Cognitive impairment Global development delay Dystonia (any or unspecified) Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Cognitive impairment
Delayed cognitive development Global development delay Ataxia Muscular hypotonia Muscular hypotonia (interictal) Show more (+3) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
8
|
n.a.
|
-Dystonia (ictal)
Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
22
|
n.a.
|
Muscular hypotonia
-Dystonia (ictal) Ataxia (ictal) Ataxia Muscular hypotonia (ictal) Dystonia (any or unspecified) Show more (+3) |
Muscular hypotonia
Ataxia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
n.a.
|
Ataxia (ictal)
Ataxia Global development delay Cognitive impairment Delayed cognitive development Show more (+2) |
n.a.
|