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