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