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
Cognitive impairment Abnormality of skeletal morphology Dystonia (any or unspecified) Motor delay Choreoathetosis Developmental regression Delayed gross motor development Dystonia, generalized Dysphagia NMS parkinsonism Short stature Dysarthria Dystonia, craniofacial Dystonia, axial Show more (+12) |
Developmental regression
|
|
No
|
♂
|
C
|
ROU
|
3
|
15
|
n.a.
|
Delayed gross motor development
Dystonia, craniofacial Dystonia, generalized Choreoathetosis Abnormality of skeletal morphology Motor delay Dystonia, axial Abnormal central motor function Dysarthria Myoclonus Dystonia (any or unspecified) NMS parkinsonism Delayed speech and language development Developmental regression Dysphagia Show more (+12) |
Dystonia, axial
|
|
Yes
|
♀
|
O
|
HND
|
2
|
17
|
No
|
Spasticity
Developmental regression Dystonia, axial Abnormal central motor function Short stature Dysarthria Delayed speech and language development Dystonia, limb Choreoathetosis Delayed fine motor development Dystonia (any or unspecified) Dystonia, craniofacial Motor delay Myoclonus Hyperreflexia Dystonia, generalized Delayed gross motor development Show more (+14) |
Dystonia, axial
Dysarthria |
|
Yes
|
♀
|
C
|
FRA
|
16
|
24
|
No
|
Rigidity
Dystonia, generalized Dysarthria Dystonia, oromandibular Mri brain abnormality Dystonia, limb Abnormal central motor function Dystonia, hand Abnormality of skeletal morphology Dystonia, craniofacial Short stature Bradykinesia Parkinsonism Dystonia (any or unspecified) Show more (+11) |
Dystonia, hand
|