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