| 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)
Abnormality of the skeletal system Peripheral neuropathy on nerve conduction studies Babinski sign Upper limb amyotrophy -Lower limb amyotrophy Lower limb muscle weakness Muscle weakness, upper limb Abnormality of the bladder Dysphagia Spastic gait Spasticity, lower limb Hyperreflexia in upper limbs Show more (+10) |
Spasticity, lower limb
|