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.
Hypertonia
Respiratory distress
Seizures
Muscle weakness
Choreoathetosis
Muscular hypotonia
Seizures (interictal)
Muscle weakness (interictal)
Visual disturbance
Muscular hypotonia (interictal)
Nystagmus
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Respiratory distress
Seizures
No
C
n.a.
0
18
n.a.
Headache (interictal)
Muscular hypotonia (interictal)
Respiratory distress
Short stature
Seizures
Seizures (interictal)
Ataxia (interictal)
Fatigue
Headache
Ataxia
Cognitive impairment (interictal)
Muscular hypotonia
Global development delay
Tremor (any or unspecified)
-Tremor (interictal)
Cognitive impairment
Hypertonia
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Muscular hypotonia
Global development delay
p.Lys387*: het
No
C
n.a.
3
4
n.a.
-Tremor (interictal)
Muscle weakness
Muscle weakness (interictal)
Muscular hypotonia (interictal)
Muscular hypotonia
Tremor (any or unspecified)
Ataxia
Respiratory distress
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Muscle weakness
Tremor (any or unspecified)
No
C
n.a.
0
n.a.
n.a.
-Spasticity (interictal)
Visual disturbance
Muscle weakness (interictal)
Respiratory distress
Spasticity
Muscle weakness
Microcephaly
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n.a.
No
C
n.a.
0
6
n.a.
Seizures (interictal)
-Dystonia (interictal)
Hypertonia
Ataxia
Microcephaly
Ataxia (interictal)
Choreoathetosis
Dystonia (any or unspecified)
Seizures
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n.a.
No
C
n.a.
10
n.a.
n.a.
Hypertonia
Muscular hypotonia (interictal)
Seizures (interictal)
-Dystonia (ictal)
Muscular hypotonia
Dystonia (any or unspecified)
Respiratory distress
Spasticity
-Spasticity (interictal)
Seizures
Short stature
Muscle weakness (interictal)
Muscle weakness
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Respiratory distress
Seizures
No
C
n.a.
1
9
n.a.
Dysarthria
Muscular hypotonia
Tremor (any or unspecified)
Ataxia (ictal)
Dysphagia
Fatigue
Ataxia
Seizures
Muscular hypotonia (interictal)
Respiratory distress
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Ataxia (ictal)
No
C
n.a.
2
10
n.a.
Muscular hypotonia (ictal)
Hypertonia
Headache
Dystonia (any or unspecified)
Muscular hypotonia
Choreoathetosis
Short stature
Ataxia
Chorea
Dysarthria
Muscle weakness
-Muscle weakness (ictal)
Hemiplegia
Ataxia (ictal)
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Ataxia (ictal)