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
Dystonic tremor
Tremor, limb
Torticollis
Tremor, head
Dystonia, craniofacial
Dystonia, cervical
Retrocollis
Dysphonia
Dystonia, limb
Dystonia, generalized
Dystonia, tongue
Tremor (any or unspecified)
Dystonia, leg
Dystonia, oromandibular
Dystonia, arm
Dystonia, laryngeal
Dystonia (any or unspecified)
Blepharospasm
Dystonia, axial
Dystonia, lower face
Show more (+17)
Dystonia, leg
p.Asn75Lys: hom
No
JO
IRN
8
57
Yes
Tremor, action
Dystonic tremor
Dystonia, limb
Dystonia, craniofacial
Dystonia, foot
Tremor (any or unspecified)
Torticollis
Dystonia, axial
Retrocollis
Dystonia, tongue
Dystonia, arm
Dystonia, laryngeal
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, oromandibular
Dysarthria
Dystonia, leg
Dystonia, lower face
Dystonia, hand
Dystonia, cervical
Blepharospasm
Show more (+18)
n.a.
p.Asn75Lys: hom
Yes
JO
IRN
1
61
Yes
Dystonia, oromandibular
Blepharospasm
Dystonia, generalized
Dystonia, craniofacial
Dysarthria
Dystonia, laryngeal
Dystonia, arm
Dystonia, foot
Dystonia, axial
Tremor, limb
Tremor, head
Dystonia, cervical
Dystonia, leg
Dystonic tremor
Dystonia (any or unspecified)
Dystonia, tongue
Tremor (any or unspecified)
Torticollis
Dystonia, jaw
Dystonia, limb
Dystonia, lower face
Show more (+18)
Dystonia, leg
p.Asn75Lys: hom