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