| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
2
|
No
|
Dystonia, arm
Dystonic crisis Dystonia, leg Dystonia, parkinsonism or dyskinesia Dystonia, cervical Developmental delay/intellectual disability Dyskinesia Dystonia, hand Motor delay Anarthria Rigidity Muscular hypotonia Dystonia, foot Dystonia, oromandibular Hyperreflexia Dystonia, limb Dystonia (any or unspecified) Dyskinesia, orolingual Dystonia, generalized Ptosis Show more (+17) |
Muscular hypotonia
Dystonia, generalized |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Tremor (any or unspecified)
Dystonia, oromandibular Dystonia, hand Dystonia (any or unspecified) Dystonia, axial Rigidity Dystonia, leg Dystonia, arm Dystonia, limb Dystonia, parkinsonism or dyskinesia Developmental delay/intellectual disability Dystonia, generalized Dystonic crisis Dyskinesia, orolingual Dystonia, cervical Dystonia, foot Muscular hypotonia Motor delay Anarthria Dyskinesia Show more (+17) |
Dystonia, generalized
Muscular hypotonia |