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