Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
37
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia, craniofacial Rigidity Dystonia (any or unspecified) Dystonia, generalized Dystonia, laryngeal Parkinsonism Blepharospasm Dystonia, combined Bradykinesia Postural instability Dystonia, axial Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
31
|
n.a.
|
Yes
|
Dystonia, laryngeal
Tremor, action Parkinsonism Dysarthria Dystonia, combined Dystonia, generalized Dystonia, axial Bradykinesia Resting tremor Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, cervical Blepharospasm Tremor (any or unspecified) Show more (+11) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
40
|
n.a.
|
Yes
|
Dystonia, cervical
Dystonia, craniofacial Rigidity Tremor (any or unspecified) Blepharospasm Dystonia, combined Dystonia, generalized Postural instability Resting tremor Dysarthria Dystonia (any or unspecified) Dystonia, axial Dystonia, lower limb Tremor, action Bradykinesia Parkinsonism Show more (+13) |
Dystonia, lower limb
|
|
Yes
|
♂
|
A
|
PHL
|
33
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Dystonia, upper limb Dystonia, cervical Dystonia, lower limb Dystonia, segmental/multifocal Parkinsonism Dystonia, combined Dystonia, craniofacial Rigidity Bradykinesia Show more (+7) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
37
|
n.a.
|
Yes
|
Blepharospasm
Resting tremor Bradykinesia Dystonia (any or unspecified) Dystonia, segmental/multifocal Tremor, action Dystonia, craniofacial Parkinsonism Myoclonus Tremor (any or unspecified) Dystonia, combined Dystonia, upper limb Show more (+9) |
Dystonia, craniofacial
|
|
Yes
|
♂
|
A
|
PHL
|
34
|
n.a.
|
Yes
|
Postural instability
Bradykinesia Postural tremor Rigidity Dystonia, combined Dystonia, axial Dystonia, generalized Dystonia, cervical Dystonia, craniofacial Parkinsonism Tremor, action Dystonia (any or unspecified) Dystonia, lower limb Tremor (any or unspecified) Resting tremor Show more (+12) |
Dystonia, cervical
Resting tremor |
|
Yes
|
♂
|
A
|
PHL
|
36
|
n.a.
|
Yes
|
Dystonia, axial
Dystonia, cervical Dystonia, generalized Bradykinesia Dystonia, lower limb Parkinsonism Postural instability Dystonia (any or unspecified) Rigidity Dystonia, combined Show more (+7) |
Dystonia, lower limb
Parkinsonism |
|
Yes
|
♂
|
A
|
PHL
|
36
|
n.a.
|
Yes
|
Bradykinesia
Dystonia (any or unspecified) Dystonia, combined Postural instability Dystonia, segmental/multifocal Dystonia, upper limb Parkinsonism Postural tremor Rigidity Blepharospasm Dystonia, craniofacial Tremor (any or unspecified) Tremor, action Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
49
|
n.a.
|
Yes
|
Dystonia, axial
Tremor (any or unspecified) Parkinsonism Resting tremor Dystonia, cervical Dystonia, combined Bradykinesia Dystonia (any or unspecified) Tremor, action Rigidity Postural instability Postural tremor Dystonia, focal Show more (+10) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
39
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Dystonia, upper limb Tremor, action Dystonia, craniofacial Dystonia, combined Tremor (any or unspecified) Parkinsonism Bradykinesia Resting tremor Dystonia, axial Myoclonus Rigidity Dystonia, cervical Dystonia, generalized Dystonia, lower limb Show more (+12) |
Tremor, action
|