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