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