| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
1
|
7
|
n.a.
|
Spasticity, lower limb
Hyperreflexia in upper limbs Upper limb amyotrophy Babinski sign Peripheral neuropathy on nerve conduction studies Abnormality of the skeletal system Dystonia (any or unspecified) Lower limb muscle weakness Muscle weakness, upper limb Spastic gait Dysphagia Abnormality of the bladder -Lower limb amyotrophy Show more (+10) |
Spasticity, lower limb
|