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 (any or unspecified)
Blepharospasm
Dysphonia
Tremor, head
Dystonia, tongue
Dystonia, axial
Dystonia, cervical
Dystonia, leg
Dystonia, generalized
Dystonia, oromandibular
Dystonia, craniofacial
Tremor, limb
Dystonia, lower face
Torticollis
Dystonia, limb
Dystonia, laryngeal
Dystonic tremor
Dystonia, arm
Tremor (any or unspecified)
Retrocollis
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Dystonia, leg
p.Asn75Lys: hom
No
JO
IRN
8
57
Yes
Dystonia, tongue
Dystonia, foot
Dystonia, craniofacial
Torticollis
Retrocollis
Dystonia, limb
Dystonia, lower face
Dystonia (any or unspecified)
Dysarthria
Blepharospasm
Dystonia, laryngeal
Dystonia, generalized
Dystonic tremor
Dystonia, hand
Dystonia, cervical
Dystonia, oromandibular
Dystonia, axial
Dystonia, arm
Tremor (any or unspecified)
Tremor, action
Dystonia, leg
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n.a.
p.Asn75Lys: hom
Yes
JO
IRN
1
61
Yes
Dystonic tremor
Torticollis
Dystonia (any or unspecified)
Dystonia, leg
Blepharospasm
Dystonia, jaw
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, arm
Tremor, limb
Dystonia, foot
Dysarthria
Dystonia, cervical
Dystonia, lower face
Tremor, head
Dystonia, axial
Dystonia, tongue
Tremor (any or unspecified)
Dystonia, generalized
Dystonia, limb
Dystonia, laryngeal
Show more (+18)
Dystonia, leg
p.Asn75Lys: hom