| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
5
|
n.a.
|
No
|
Dystonia, segmental/multifocal
Gait difficulties Tremor (any or unspecified) Resting tremor Dystonia (any or unspecified) Dystonia, limb Lower limb dystonia Show more (+4) |
Dystonia, limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
27
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Hypotonia Dystonia, limb Lower limb dystonia Hyperreflexia Tremor, intention Tremor (any or unspecified) Postural instability Residual motor signs Resting tremor Gait difficulties Dysarthria Delayed motor development Rigidity Autonomic sign/sympt. Diurnal fluctuations Developmental delay Spasticity Sleep benefit Show more (+17) |
Hypotonia
|