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