Charlesworth, 2015: Overview of all reported DYT-HPCA patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
JO
IRN
5
51
Yes
Dystonia, lower face
Blepharospasm
Torticollis
Tremor, limb
Dystonia, tongue
Dystonia (any or unspecified)
Tremor, head
Dystonia, generalized
Dysphonia
Dystonia, limb
Tremor (any or unspecified)
Dystonia, axial
Dystonia, cervical
Retrocollis
Dystonic tremor
Dystonia, laryngeal
Dystonia, arm
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, leg
Show more (+17)
Dystonia, leg
p.Asn75Lys: hom
No
JO
IRN
8
57
Yes
Dystonia, oromandibular
Dystonia, cervical
Dystonia, axial
Dystonia, hand
Dystonia, leg
Dystonia, lower face
Retrocollis
Dystonia, arm
Dystonia (any or unspecified)
Dystonic tremor
Tremor (any or unspecified)
Dysarthria
Dystonia, tongue
Dystonia, foot
Blepharospasm
Dystonia, craniofacial
Dystonia, generalized
Dystonia, laryngeal
Tremor, action
Torticollis
Dystonia, limb
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n.a.
p.Asn75Lys: hom
Yes
JO
IRN
1
61
Yes
Tremor (any or unspecified)
Dystonia, laryngeal
Dysarthria
Dystonia, axial
Dystonic tremor
Dystonia, foot
Blepharospasm
Tremor, head
Dystonia, arm
Dystonia, jaw
Tremor, limb
Dystonia, oromandibular
Torticollis
Dystonia, cervical
Dystonia, limb
Dystonia, lower face
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, leg
Dystonia, tongue
Show more (+18)
Dystonia, leg
p.Asn75Lys: hom