| 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, limb
Tremor (any or unspecified) Dystonia (any or unspecified) Resting tremor Gait difficulties Dystonia, segmental/multifocal Lower limb dystonia Show more (+4) |
Dystonia, limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
27
|
n.a.
|
Lower limb dystonia
Dystonia (any or unspecified) Dystonia, limb Delayed motor development Spasticity Tremor, intention Dysarthria Diurnal fluctuations Residual motor signs Dystonia, segmental/multifocal Developmental delay Rigidity Postural instability Gait difficulties Sleep benefit Resting tremor Tremor (any or unspecified) Hypotonia Hyperreflexia Autonomic sign/sympt. Show more (+17) |
Hypotonia
|