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