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