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