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