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