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