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