| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
1
|
7
|
n.a.
|
Dystonia (any or unspecified)
Muscle weakness, upper limb Abnormality of the bladder Spastic gait Spasticity, lower limb Abnormality of the skeletal system Upper limb amyotrophy Hyperreflexia in upper limbs Dysphagia Lower limb muscle weakness -Lower limb amyotrophy Peripheral neuropathy on nerve conduction studies Babinski sign Show more (+10) |
Spasticity, lower limb
|