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