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