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