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