Ostergaard, 2009: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
DNK
|
3
|
4
|
n.a.
|
Muscular hypotonia (interictal)
Cognitive impairment Seizures Muscular hypotonia Dystonia (any or unspecified) Global development delay Delayed cognitive development Show more (+4) |
Seizures
|
|
Yes
|
♂
|
n.a.
|
TUR
|
3
|
12
|
No
|
Cognitive impairment
Muscular hypotonia Ataxia |
Muscular hypotonia
Ataxia |
|
No
|
♀
|
n.a.
|
DNK
|
3
|
3
|
n.a.
|
Vomiting
Muscular hypotonia Visual disturbance Delayed cognitive development Global development delay Cognitive impairment Dystonia (any or unspecified) Muscular hypotonia (interictal) Hemiplegia Spasticity Show more (+7) |
Vomiting
|