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 Show more (+12) |
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 Show more (+12) |
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 Show more (+14) |
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 Show more (+11) |
Dystonia, hand
|