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