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