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