Roze, 2005: Overview of all reported DYT/PARK-GLB1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
ROU
7
19
n.a.
Abnormal central motor function
Dystonia (any or unspecified)
Motor delay
Dystonia, craniofacial
Abnormality of skeletal morphology
Delayed gross motor development
Short stature
Cognitive impairment
Dysarthria
Dystonia, axial
NMS parkinsonism
Dystonia, generalized
Developmental regression
Dysphagia
Choreoathetosis
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Developmental regression
No
C
ROU
3
15
n.a.
Delayed speech and language development
Dysphagia
Myoclonus
Dysarthria
Developmental regression
Dystonia (any or unspecified)
Abnormal central motor function
Dystonia, axial
Abnormality of skeletal morphology
Dystonia, craniofacial
NMS parkinsonism
Dystonia, generalized
Choreoathetosis
Motor delay
Delayed gross motor development
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Dystonia, axial
Yes
O
HND
2
17
No
Hyperreflexia
Abnormal central motor function
Delayed speech and language development
Dystonia (any or unspecified)
Developmental regression
Choreoathetosis
Dystonia, generalized
Dystonia, craniofacial
Dysarthria
Delayed gross motor development
Spasticity
Dystonia, axial
Motor delay
Delayed fine motor development
Myoclonus
Dystonia, limb
Short stature
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Dysarthria
Dystonia, axial
Yes
C
FRA
16
24
No
Rigidity
Short stature
Dystonia, limb
Abnormal central motor function
Dystonia (any or unspecified)
Abnormality of skeletal morphology
Mri brain abnormality
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, hand
Parkinsonism
Bradykinesia
Dystonia, generalized
Dysarthria
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Dystonia, hand