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.
|
Hypertonia
Respiratory distress Seizures Muscle weakness Choreoathetosis Muscular hypotonia Seizures (interictal) Muscle weakness (interictal) Visual disturbance Muscular hypotonia (interictal) Nystagmus Show more (+8) |
Respiratory distress
Seizures |
|
No
|
♀
|
C
|
n.a.
|
0
|
18
|
n.a.
|
Headache (interictal)
Muscular hypotonia (interictal) Respiratory distress Short stature Seizures Seizures (interictal) Ataxia (interictal) Fatigue Headache Ataxia Cognitive impairment (interictal) Muscular hypotonia Global development delay Tremor (any or unspecified) -Tremor (interictal) Cognitive impairment Hypertonia Show more (+14) |
Muscular hypotonia
Global development delay |
|
No
|
♂
|
C
|
n.a.
|
3
|
4
|
n.a.
|
-Tremor (interictal)
Muscle weakness Muscle weakness (interictal) Muscular hypotonia (interictal) Muscular hypotonia Tremor (any or unspecified) Ataxia Respiratory distress Show more (+5) |
Muscle weakness
Tremor (any or unspecified) |
|
No
|
♀
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
-Spasticity (interictal)
Visual disturbance Muscle weakness (interictal) Respiratory distress Spasticity Muscle weakness Microcephaly Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
0
|
6
|
n.a.
|
Seizures (interictal)
-Dystonia (interictal) Hypertonia Ataxia Microcephaly Ataxia (interictal) Choreoathetosis Dystonia (any or unspecified) Seizures Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
10
|
n.a.
|
n.a.
|
Hypertonia
Muscular hypotonia (interictal) Seizures (interictal) -Dystonia (ictal) Muscular hypotonia Dystonia (any or unspecified) Respiratory distress Spasticity -Spasticity (interictal) Seizures Short stature Muscle weakness (interictal) Muscle weakness Show more (+10) |
Respiratory distress
Seizures |
|
No
|
♂
|
C
|
n.a.
|
1
|
9
|
n.a.
|
Dysarthria
Muscular hypotonia Tremor (any or unspecified) Ataxia (ictal) Dysphagia Fatigue Ataxia Seizures Muscular hypotonia (interictal) Respiratory distress Show more (+7) |
Ataxia (ictal)
|
|
No
|
♂
|
C
|
n.a.
|
2
|
10
|
n.a.
|
Muscular hypotonia (ictal)
Hypertonia Headache Dystonia (any or unspecified) Muscular hypotonia Choreoathetosis Short stature Ataxia Chorea Dysarthria Muscle weakness -Muscle weakness (ictal) Hemiplegia Ataxia (ictal) Show more (+11) |
Ataxia (ictal)
|