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