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