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