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