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