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