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