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