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