van Dongen, 2015: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
Choreoathetosis
Hypertonia Muscle weakness Visual disturbance Respiratory distress Muscular hypotonia (interictal) Muscular hypotonia Seizures (interictal) Muscle weakness (interictal) Seizures Nystagmus Show more (+8) |
Respiratory distress
Seizures |
|
No
|
♀
|
C
|
n.a.
|
0
|
18
|
n.a.
|
Ataxia (interictal)
Global development delay Tremor (any or unspecified) Cognitive impairment Muscular hypotonia Seizures (interictal) Cognitive impairment (interictal) Headache Ataxia -Tremor (interictal) Muscular hypotonia (interictal) Respiratory distress Short stature Hypertonia Seizures Headache (interictal) Fatigue Show more (+14) |
Global development delay
Muscular hypotonia |
|
No
|
♂
|
C
|
n.a.
|
3
|
4
|
n.a.
|
Muscle weakness
Muscle weakness (interictal) Muscular hypotonia Muscular hypotonia (interictal) -Tremor (interictal) Ataxia Respiratory distress Tremor (any or unspecified) Show more (+5) |
Muscle weakness
Tremor (any or unspecified) |
|
No
|
♀
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
Microcephaly
Respiratory distress Muscle weakness (interictal) Muscle weakness -Spasticity (interictal) Spasticity Visual disturbance Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
0
|
6
|
n.a.
|
Ataxia
Hypertonia Ataxia (interictal) Dystonia (any or unspecified) Seizures Choreoathetosis Seizures (interictal) -Dystonia (interictal) Microcephaly Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
10
|
n.a.
|
n.a.
|
-Dystonia (ictal)
Dystonia (any or unspecified) Muscle weakness -Spasticity (interictal) Muscular hypotonia Seizures (interictal) Short stature Spasticity Respiratory distress Seizures Hypertonia Muscle weakness (interictal) Muscular hypotonia (interictal) Show more (+10) |
Respiratory distress
Seizures |
|
No
|
♂
|
C
|
n.a.
|
1
|
9
|
n.a.
|
Dysarthria
Ataxia Respiratory distress Ataxia (ictal) Fatigue Dysphagia Muscular hypotonia (interictal) Muscular hypotonia Tremor (any or unspecified) Seizures Show more (+7) |
Ataxia (ictal)
|
|
No
|
♂
|
C
|
n.a.
|
2
|
10
|
n.a.
|
Hypertonia
Muscular hypotonia Dysarthria Headache Dystonia (any or unspecified) Hemiplegia Ataxia (ictal) Chorea Ataxia -Muscle weakness (ictal) Choreoathetosis Muscular hypotonia (ictal) Short stature Muscle weakness Show more (+11) |
Ataxia (ictal)
|