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