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