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