Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
A
|
PHL
|
42
|
42
|
Yes
|
Dystonia, combined
Tremor, action Postural instability Parkinsonism Tremor (any or unspecified) Dystonia (any or unspecified) Bradykinesia Dystonia, lower limb Show more (+5) |
Tremor, action
Postural instability Bradykinesia |
|
Yes
|
♂
|
A
|
PHL
|
38
|
77
|
Yes
|
Postural instability
Dystonia, axial Dystonia (any or unspecified) Dystonia, cervical Rigidity Dystonia, generalized Dystonia, upper limb Tremor (any or unspecified) Parkinsonism Tremor, action Dystonia, combined Bradykinesia Show more (+9) |
Dystonia, axial
Dystonia, cervical Dystonia, upper limb |
|
No
|
♂
|
A
|
PHL
|
43
|
50
|
Yes
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Bradykinesia Parkinsonism Tremor (any or unspecified) Rigidity Tremor, action Dysarthria Postural instability Dystonia, combined Show more (+7) |
Rigidity
|
|
No
|
♂
|
A
|
PHL
|
41
|
46
|
Yes
|
Dystonia, combined
Dystonia, craniofacial Rigidity Dystonia (any or unspecified) Dystonia, generalized Postural instability Dystonia, axial Blepharospasm Dystonia, upper limb Parkinsonism Dystonia, cervical Dystonia, lower limb Show more (+9) |
Blepharospasm
Dystonia, lower limb |
|
No
|
♂
|
A
|
PHL
|
47
|
58
|
Yes
|
Rigidity
Tremor, action Dystonia, craniofacial Tremor (any or unspecified) Blepharospasm Dystonia (any or unspecified) Dystonia, combined Dystonia, segmental/multifocal Dystonia, lower limb Resting tremor Parkinsonism Postural instability Dysarthria Show more (+10) |
Dystonia, lower limb
Resting tremor |
|
No
|
♂
|
A
|
PHL
|
36
|
38
|
Yes
|
Dystonia, lower limb
Dystonia, combined Rigidity Dystonia (any or unspecified) Parkinsonism Bradykinesia Show more (+3) |
Bradykinesia
|
|
No
|
♂
|
A
|
PHL
|
33
|
52
|
Yes
|
Postural instability
Dystonia (any or unspecified) Dystonia, combined Tremor, action Tremor (any or unspecified) Parkinsonism Bradykinesia Dystonia, lower limb Show more (+5) |
Bradykinesia
|
|
No
|
♂
|
A
|
PHL
|
42
|
57
|
Yes
|
Postural instability
Parkinsonism Tremor (any or unspecified) Bradykinesia Tremor, action Dystonia, focal Rigidity Dystonia, lower limb Dystonia (any or unspecified) Dystonia, combined Show more (+7) |
Postural instability
Rigidity Dystonia, lower limb |