Deodato, 2017: 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
|
♀
|
C
|
ITA
|
4
|
8
|
n.a.
|
Dystonia, limb
Abnormal central motor function Dystonia (any or unspecified) Dysarthria Cognitive impairment Ataxia Abnormality of skeletal morphology Delayed speech and language development Developmental regression Dysmorphic features Delayed fine motor development Anarthria Rigidity Motor delay Delayed gross motor development Bradykinesia Parkinsonism Global developmental delay Postural instability Sleep disorder Show more (+17) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
10
|
n.a.
|
Motor delay
Cognitive impairment Rigidity Dysmorphic features Dystonia, lower face Sleep disorder Developmental regression Delayed speech and language development Facial grimacing Bradykinesia Dystonia, limb Dystonia (any or unspecified) Abnormal central motor function Mri brain abnormality Postural instability Dysarthria Dystonia, craniofacial Ataxia Anarthria Parkinsonism Delayed gross motor development Show more (+18) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
20
|
20
|
n.a.
|
Developmental regression
Dysarthria Upper motor neuron dysfunction Delayed speech and language development Dystonia, lower face Ataxia Short stature Spasticity Dysmorphic features Abnormal central motor function Abnormality of skeletal morphology Facial grimacing Parkinsonism Postural instability Hyperreflexia Bradykinesia Dystonia (any or unspecified) Dystonia, craniofacial Show more (+15) |
Developmental regression
Dysarthria |