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