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