Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
BRA
|
2
|
36
|
n.a.
|
Impaired proprioception
Lower limb muscle weakness Muscle weakness, upper limb Spasticity, lower limb Impaired temperature sensation Inability to walk Pes cavus Spasticity, upper limb Hyperreflexia in upper limbs Impaired vibratory sensation Dysarthria Abnormality of the cerebral white matter Wheelchair Dysphagia Impaired pain sensation Mri brain other abnormalities Central motor conduction time abnormality Show more (+14) |
n.a.
|