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