Brain MRI: May be normal or with non-specific abnormalities. These last include cortical/cerebellar atrophy, delay in myelination, thin corpus callosum and optic nerves hypoplasia.
Somatosensorial evoked potential (SSEP): at stimulation of the tibial nerves, peak in D12 was registered but no peak was identified at the parietal cortex – translating impaired function of spinal cord dorsal columns
Genetic counseling should be offered to at-risk couples (both individuals carriers of a disease-causing variant).
Treatment is directed only at symptom management. Currently, there is not effective therapy available. Referral to an early intervention program is recommended for access to occupational, physical, and speech therapy.