Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
37
|
n.a.
|
Yes
|
Bradykinesia
Rigidity Postural instability Dystonia, craniofacial Dystonia, combined Dystonia, generalized Dystonia, laryngeal Dystonia, cervical Dystonia, axial Parkinsonism Dystonia (any or unspecified) Blepharospasm Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
31
|
n.a.
|
Yes
|
Parkinsonism
Dystonia, generalized Resting tremor Dystonia, axial Tremor (any or unspecified) Tremor, action Blepharospasm Dystonia, combined Dystonia, craniofacial Dystonia, laryngeal Dystonia, cervical Dysarthria Dystonia (any or unspecified) Bradykinesia Show more (+11) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
40
|
n.a.
|
Yes
|
Blepharospasm
Dystonia, generalized Dystonia (any or unspecified) Tremor, action Postural instability Dysarthria Bradykinesia Dystonia, cervical Tremor (any or unspecified) Parkinsonism Dystonia, axial Resting tremor Rigidity Dystonia, combined Dystonia, craniofacial Dystonia, lower limb Show more (+13) |
Dystonia, lower limb
|
|
Yes
|
♂
|
A
|
PHL
|
33
|
n.a.
|
Yes
|
Bradykinesia
Rigidity Parkinsonism Dystonia, combined Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, craniofacial Dystonia, upper limb Dystonia, lower limb Dystonia, cervical Show more (+7) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
37
|
n.a.
|
Yes
|
Resting tremor
Dystonia, upper limb Myoclonus Tremor (any or unspecified) Bradykinesia Dystonia, segmental/multifocal Parkinsonism Dystonia, combined Blepharospasm Dystonia (any or unspecified) Tremor, action Dystonia, craniofacial Show more (+9) |
Dystonia, craniofacial
|
|
Yes
|
♂
|
A
|
PHL
|
34
|
n.a.
|
Yes
|
Dystonia, lower limb
Rigidity Dystonia, craniofacial Parkinsonism Tremor, action Dystonia, combined Tremor (any or unspecified) Postural instability Postural tremor Dystonia (any or unspecified) Resting tremor Dystonia, axial Bradykinesia Dystonia, cervical Dystonia, generalized Show more (+12) |
Resting tremor
Dystonia, cervical |
|
Yes
|
♂
|
A
|
PHL
|
36
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Postural instability Dystonia, cervical Dystonia, combined Dystonia, generalized Bradykinesia Parkinsonism Dystonia, lower limb Dystonia, axial Rigidity Show more (+7) |
Parkinsonism
Dystonia, lower limb |
|
Yes
|
♂
|
A
|
PHL
|
36
|
n.a.
|
Yes
|
Dystonia, craniofacial
Rigidity Bradykinesia Dystonia, upper limb Postural tremor Blepharospasm Postural instability Tremor, action Dystonia, combined Dystonia, segmental/multifocal Parkinsonism Dystonia (any or unspecified) Tremor (any or unspecified) Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
49
|
n.a.
|
Yes
|
Dystonia, cervical
Tremor (any or unspecified) Postural instability Bradykinesia Resting tremor Rigidity Parkinsonism Dystonia, focal Dystonia (any or unspecified) Postural tremor Tremor, action Dystonia, axial Dystonia, combined Show more (+10) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
39
|
n.a.
|
Yes
|
Myoclonus
Dystonia, axial Dystonia, lower limb Resting tremor Tremor, action Dystonia, cervical Dystonia, combined Tremor (any or unspecified) Parkinsonism Rigidity Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, upper limb Bradykinesia Dystonia, generalized Show more (+12) |
Tremor, action
|
|
Yes
|
♂
|
A
|
PHL
|
21
|
n.a.
|
Yes
|
Tremor (any or unspecified)
Tremor, action Dysarthria Dystonia, combined Parkinsonism Rigidity Bradykinesia Show more (+4) |
Tremor (any or unspecified)
|