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