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