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