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