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