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