| 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, foot
Developmental delay/intellectual disability Dyskinesia, orolingual Dystonia, arm Motor delay Dystonia (any or unspecified) Dystonia, generalized Dystonia, hand Rigidity Dystonia, cervical Dystonia, parkinsonism or dyskinesia Dystonic crisis Muscular hypotonia Dystonia, oromandibular Anarthria Dystonia, limb Hyperreflexia Dyskinesia Dystonia, leg Ptosis Show more (+17) |
Dystonia, generalized
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Dystonia, hand
Dystonia, generalized Dystonic crisis Dystonia, limb Dystonia, arm Dystonia, cervical Anarthria Dystonia (any or unspecified) Dystonia, axial Rigidity Dystonia, oromandibular Developmental delay/intellectual disability Dyskinesia Dystonia, leg Muscular hypotonia Dystonia, parkinsonism or dyskinesia Motor delay Dystonia, foot Dyskinesia, orolingual Tremor (any or unspecified) Show more (+17) |
Dystonia, generalized
Muscular hypotonia |