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