| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Dystonia, generalized
Developmental regression Dyskinesia Muscular hypotonia Motor delay Dystonia (any or unspecified) Delayed speech and language development Rigidity Diurnal fluctuations Global developmental delay Dystonia, axial Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Diurnal fluctuations
Motor delay Delayed speech and language development Dysarthria Dystonia (any or unspecified) Rigidity Developmental regression Dyskinesia Global developmental delay Muscular hypotonia Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|