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