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