| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Lower limb muscle weakness
Babinski sign Tip-toe gait -Pure or uncomplicated Spastic gait Pes cavus Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Walking aids
Babinski sign Spastic gait Tip-toe gait -Pure or uncomplicated Lower limb muscle weakness Pes cavus Spasticity, lower limb Show more (+5) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
Spastic gait Tip-toe gait -Pure or uncomplicated Spasticity, lower limb Lower limb muscle weakness Babinski sign Show more (+4) |
n.a.
|
|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Lower limb muscle weakness Babinski sign Pes cavus Tip-toe gait Spastic gait Show more (+4) |
n.a.
|
|
Yes
|
♂
|
D
|
USA
|
n.a.
|
5
|
n.a.
|
Pes cavus
Spastic gait Spasticity, lower limb Lower limb muscle weakness Tip-toe gait -Pure or uncomplicated Babinski sign Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Babinski sign Spasticity, lower limb -Pure or uncomplicated Tip-toe gait Pes cavus Lower limb muscle weakness Show more (+4) |
n.a.
|