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