| 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.
|
Babinski sign
Pes cavus Spasticity, lower limb Tip-toe gait -Pure or uncomplicated Spastic gait Lower limb muscle weakness Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Walking aids Spastic gait Spasticity, lower limb Pes cavus -Pure or uncomplicated Lower limb muscle weakness Tip-toe gait Show more (+5) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
-Pure or uncomplicated Tip-toe gait Spasticity, lower limb Babinski sign Lower limb muscle weakness Spastic gait Show more (+4) |
n.a.
|
|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Pes cavus Babinski sign Tip-toe gait Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Show more (+4) |
n.a.
|
|
Yes
|
♂
|
D
|
USA
|
n.a.
|
5
|
n.a.
|
Tip-toe gait
Babinski sign Lower limb muscle weakness -Pure or uncomplicated Spastic gait Spasticity, lower limb Pes cavus Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Tip-toe gait
Babinski sign Spasticity, lower limb Spastic gait -Pure or uncomplicated Lower limb muscle weakness Pes cavus Show more (+4) |
n.a.
|