Kannebley, 2015: 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
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Ophthalmologic abnormalities
Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, limb Dystonia, lower face Dysarthria Abnormality of skeletal morphology Abnormal central motor function Dysphagia Amyotrophy Short stature Upper motor neuron dysfunction Facial grimacing Show more (+10) |
Abnormality of skeletal morphology
|
|
Yes
|
♀
|
n.a.
|
BRA
|
17
|
n.a.
|
No
|
Short stature
Amyotrophy Cognitive impairment Dystonia, craniofacial Dystonia, limb Abnormal central motor function Dysphagia Dystonia (any or unspecified) Dysarthria Facial grimacing Dystonia, lower face Abnormality of skeletal morphology Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia (any or unspecified)
Abnormal central motor function Developmental regression Abnormality of skeletal morphology Dystonia, craniofacial Short stature Dystonia, lower face Facial grimacing Dystonia, limb Dysarthria Show more (+7) |
Developmental regression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Amyotrophy
Dysphagia Dystonia, limb Dystonia, craniofacial Facial grimacing Dystonia, lower face Short stature Dystonia (any or unspecified) Dysarthria Abnormal central motor function Abnormality of skeletal morphology Gait disturbance Upper motor neuron dysfunction Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Abnormality of skeletal morphology
Short stature Facial grimacing Dystonia, lower face Developmental regression Dystonia (any or unspecified) Abnormal central motor function Dysarthria Dystonia, limb Amyotrophy Dystonia, craniofacial Upper motor neuron dysfunction Show more (+9) |
Developmental regression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia, lower face
Facial grimacing Ataxia Dysarthria Developmental regression Amyotrophy Dystonia (any or unspecified) Abnormality of skeletal morphology Dystonia, limb Gait disturbance Dystonia, craniofacial Dysphagia Upper motor neuron dysfunction Abnormal central motor function Short stature Show more (+12) |
Gait disturbance
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Facial grimacing
Dystonia, lower face Dystonia, limb Upper motor neuron dysfunction Short stature Dystonia, craniofacial Global developmental delay Abnormal central motor function Dysarthria Abnormality of skeletal morphology Amyotrophy Dysphagia Dystonia (any or unspecified) Show more (+10) |
Global developmental delay
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Global developmental delay
Facial grimacing Dysphagia Amyotrophy Upper motor neuron dysfunction Dystonia, lower face Abnormal central motor function Dysarthria Abnormality of skeletal morphology Gait disturbance Dystonia (any or unspecified) Short stature Dystonia, limb Dystonia, craniofacial Show more (+11) |
Global developmental delay
Gait disturbance |