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