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 |