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