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