Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
36
|
38
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, cervical Parkinsonism Dystonia, axial Dystonia, generalized Dystonia, lower limb Rigidity Bradykinesia Dystonia, combined Show more (+6) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
37
|
41
|
n.a.
|
Blepharospasm
Rigidity Myoclonus Tremor, action Dystonia, generalized Dystonia, cervical Dystonia (any or unspecified) Dystonia, axial Bradykinesia Dystonia, craniofacial Dystonia, lower limb Dystonia, combined Parkinsonism Tremor (any or unspecified) Show more (+11) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
21
|
34
|
Yes
|
Dystonia, lower limb
Parkinsonism Rigidity Dystonia, cervical Dystonia (any or unspecified) Dystonia, combined Tremor (any or unspecified) Tremor, action Bradykinesia Dystonia, upper limb Show more (+7) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
39
|
41
|
Yes
|
Dystonia, lower limb
Tremor (any or unspecified) Dysarthria Parkinsonism Rigidity Dystonia (any or unspecified) Tremor, action Dystonia, combined Dystonia, upper limb Postural instability Bradykinesia Show more (+8) |
Tremor (any or unspecified)
Parkinsonism Rigidity |
|
Yes
|
♂
|
A
|
PHL
|
34
|
36
|
n.a.
|
Dystonia, axial
Dystonia, cervical Dystonia, generalized Bradykinesia Dystonia (any or unspecified) Dystonia, upper limb Dystonia, combined Parkinsonism Tremor, action Tremor (any or unspecified) Dystonia, lower limb Rigidity Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
40
|
42
|
Yes
|
Dystonia (any or unspecified)
Dystonia, craniofacial Parkinsonism Dystonia, lower limb Rigidity Tremor (any or unspecified) Postural instability Blepharospasm Dysarthria Resting tremor Dystonia, combined Dystonia, segmental/multifocal Bradykinesia Tremor, action Show more (+11) |
Tremor (any or unspecified)
|