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