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.
Dysarthria
Dystonia, craniofacial
Abnormality of skeletal morphology
Delayed gross motor development
Abnormal central motor function
Dysphagia
Dystonia (any or unspecified)
Cognitive impairment
Choreoathetosis
Motor delay
NMS parkinsonism
Dystonia, generalized
Developmental regression
Dystonia, axial
Short stature
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Developmental regression
No
C
ROU
3
15
n.a.
Abnormality of skeletal morphology
Dystonia (any or unspecified)
NMS parkinsonism
Abnormal central motor function
Myoclonus
Developmental regression
Dysphagia
Delayed gross motor development
Dystonia, axial
Delayed speech and language development
Dysarthria
Motor delay
Choreoathetosis
Dystonia, craniofacial
Dystonia, generalized
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Dystonia, axial
Yes
O
HND
2
17
No
Dystonia, craniofacial
Developmental regression
Delayed gross motor development
Short stature
Spasticity
Hyperreflexia
Dystonia (any or unspecified)
Dystonia, generalized
Abnormal central motor function
Dystonia, limb
Delayed speech and language development
Delayed fine motor development
Choreoathetosis
Dysarthria
Motor delay
Myoclonus
Dystonia, axial
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Dysarthria
Dystonia, axial
Yes
C
FRA
16
24
No
Abnormality of skeletal morphology
Dystonia, oromandibular
Parkinsonism
Mri brain abnormality
Dystonia, limb
Dysarthria
Dystonia (any or unspecified)
Short stature
Rigidity
Dystonia, generalized
Dystonia, hand
Dystonia, craniofacial
Bradykinesia
Abnormal central motor function
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Dystonia, hand