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
-Lower limb amyotrophy Abnormality of the skeletal system Upper limb amyotrophy Babinski sign Abnormality of the bladder Dysphagia Lower limb muscle weakness Peripheral neuropathy on nerve conduction studies Dystonia (any or unspecified) Spasticity, lower limb Hyperreflexia in upper limbs Spastic gait Show more (+10) |
Spasticity, lower limb
|