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