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