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