Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
46
|
49
|
n.a.
|
Parkinsonism
Dystonia, craniofacial Postural instability Dystonia, axial Dystonia, lower limb Rigidity Dystonia, cervical Tremor, action Bradykinesia Dystonia (any or unspecified) Dystonia, generalized Tremor (any or unspecified) Dystonia, combined Dystonia, upper limb Resting tremor Show more (+12) |
Tremor, action
|
|
Yes
|
♂
|
A
|
PHL
|
47
|
52
|
n.a.
|
Dystonia, axial
Dystonia, upper limb Dystonia, combined Dystonia, lower limb Postural instability Bradykinesia Resting tremor Rigidity Dystonia (any or unspecified) Dystonia, generalized Dystonia, cervical Dystonia, craniofacial Tremor (any or unspecified) Parkinsonism Show more (+11) |
Dystonia, cervical
|
|
Yes
|
♂
|
A
|
PHL
|
31
|
36
|
n.a.
|
Dystonia, generalized
Parkinsonism Rigidity Dystonia, cervical Dystonia, craniofacial Dystonia, axial Bradykinesia Dystonia, combined Dystonia (any or unspecified) Postural instability Dystonia, upper limb Dystonia, lower limb Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
32
|
34
|
n.a.
|
Dystonia (any or unspecified)
Bradykinesia Dystonia, lower limb Dystonia, combined Postural instability Dystonia, craniofacial Dystonia, cervical Dystonia, generalized Parkinsonism Dystonia, axial Dystonia, upper limb Rigidity Show more (+9) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
48
|
51
|
n.a.
|
Dystonia, craniofacial
Dystonia, axial Dystonia (any or unspecified) Parkinsonism Postural instability Dystonia, upper limb Rigidity Dystonia, cervical Bradykinesia Dystonia, generalized Dystonia, combined Dystonia, lower limb Show more (+9) |
Dystonia, lower limb
|
|
Yes
|
♂
|
A
|
PHL
|
38
|
44
|
n.a.
|
Postural instability
Bradykinesia Resting tremor Dystonia, combined Dystonia, cervical Dystonia, craniofacial Parkinsonism Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, upper limb Rigidity Dystonia, lower limb Dystonia, generalized Show more (+10) |
Dystonia, upper limb
|
|
Yes
|
♂
|
A
|
PHL
|
29
|
34
|
n.a.
|
Dystonia, craniofacial
Dystonia (any or unspecified) Postural instability Rigidity Dystonia, combined Bradykinesia Dystonia, cervical Dystonia, upper limb Dystonia, generalized Dystonia, lower limb Blepharospasm Dystonia, axial Parkinsonism Show more (+10) |
Dystonia, craniofacial
|
|
Yes
|
♂
|
A
|
PHL
|
34
|
35
|
n.a.
|
Parkinsonism
Dystonia, generalized Dystonia, combined Rigidity Dysarthria Dystonia, lower limb Dystonia, upper limb Postural instability Bradykinesia Dystonia (any or unspecified) Show more (+7) |
Dysarthria
|