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