Camargos, 2008: Overview of all reported DYT-PRKRA patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
12
35
n.a.
Dystonia, laryngeal
Delayed speech and language development
Global developmental delay
Parkinsonism
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, craniofacial
Dystonia, tongue
Dystonia, limb
Dystonia,task-specific
Dystonia, generalized
Dystonia, leg
Dystonia, arm
Dystonia, hand
Dystonia, oromandibular
Dysphonia
Bradykinesia
Show more (+14)
Dystonia, limb
Dystonia, leg
No
O
BRA
11
32
n.a.
Dystonia, axial
Dystonia,task-specific
Dystonia, oromandibular
Dystonia, arm
Dystonia, generalized
Dystonia, hand
Retrocollis
Dystonia, craniofacial
Dystonia, foot
Dystonia, laryngeal
Dystonia, limb
Dystonia (any or unspecified)
Dysphonia
Dystonia, cervical
Show more (+11)
Dystonia, foot
Dystonia, limb
No
O
BRA
2
19
n.a.
Dystonia, leg
Dystonia, laryngeal
Motor delay
Global developmental delay
Dysphonia
Dystonia, hand
Dystonia, generalized
Cognitive impairment
Bradykinesia
Dystonia, axial
Dystonia,task-specific
Dystonia, oromandibular
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, craniofacial
Show more (+12)
Dystonia, limb
No
O
BRA
11
34
n.a.
Parkinsonism
Retrocollis
Dystonia, cervical
Geste antagoniste
Dystonia, axial
Dystonia, craniofacial
Dystonia (any or unspecified)
Dysphonia
Global developmental delay
Motor delay
Dystonia, oromandibular
Dystonia, generalized
Dystonia, hand
Dystonia, arm
Dystonia, foot
Dystonia,task-specific
Dystonia, limb
Dystonia, leg
Dystonia, laryngeal
Delayed speech and language development
Dysarthria
Dystonia, tongue
Show more (+19)
Dystonia, hand
Dystonia, limb
No
O
BRA
2
48
n.a.
Tremor, limb
Dystonia (any or unspecified)
Rigidity
Resting tremor
Delayed speech and language development
Tremor (any or unspecified)
Dystonia, oromandibular
Dysphonia
Dystonia, tongue
Dystonia, limb
Dystonia, generalized
Dystonia, craniofacial
Global developmental delay
Parkinsonism
Bradykinesia
Dystonia, axial
Postural tremor
Dystonia, hand
Dystonia, laryngeal
Dystonia,task-specific
Dystonia, foot
Dystonia, leg
Show more (+19)
Dysphonia
Dystonia, laryngeal
No
O
BRA
18
64
n.a.
Dystonia, oromandibular
Dystonia, leg
Dystonia, cervical
Dysarthria
Dystonia, axial
Dystonia, hand
Dystonia, arm
Dystonia, generalized
Bradykinesia
Parkinsonism
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia,task-specific
Dystonia, limb
Dysphonia
Dystonia, laryngeal
Show more (+13)
Dystonia, leg
Dystonia, limb
Yes
O
BRA
7
42
n.a.
Dystonia, limb
Dystonia, oromandibular
Parkinsonism
Rigidity
Dysphonia
Dystonia,task-specific
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, tongue
Bradykinesia
Dystonia, generalized
Dystonia, leg
Dystonia, foot
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, hand
Anarthria
Show more (+14)
Dystonia, limb
Dystonia, hand