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