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