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