Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
20
|
30
|
n.a.
|
Mri spine abnormalities
Lower limb muscle weakness -Pure or uncomplicated Pes cavus Spasticity, lower limb Babinski sign Show more (+3) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
2
|
6
|
n.a.
|
-Pure or uncomplicated
Babinski sign |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
15
|
35
|
n.a.
|
Babinski sign
-Pure or uncomplicated Lower limb muscle weakness Pes cavus Spasticity, lower limb Mri spine abnormalities Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
36
|
46
|
n.a.
|
Hyporeflexia of lower limbs
Spasticity, lower limb -Pure or uncomplicated |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
36
|
62
|
n.a.
|
Babinski sign
Spasticity, lower limb -Pure or uncomplicated |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
42
|
50
|
n.a.
|
-Pure or uncomplicated
Babinski sign Lower limb muscle weakness Spasticity, lower limb Pes cavus Show more (+2) |
n.a.
|