These spheroids can be throughout the cerebral hemispheres, explaining the psychotic symptoms by disconnection of the brain from itself by axonal functional disruption.In the Peripheral nervous system, the disease is more severe. While most nervous system diseases affect either CNS or PNS, this disease affects both, but it is the changes in the peripheral nervous system that lead to death. This occurs by axonal disease paralyzing the skeletal muscles, including the respiratory muscles as a result of axonal damage in peripheral nerves. Changes in the axons are more severe in the PNS than CNS and under the electron microscope, some axons look necrotic, by virtue of containing mitochondrial flocculent densities and other irreversible changes. The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kilograms, remarkable in view of the preserved brain weights. Diagnosis
Typical diagnostic workup includes
clinical features
electrophysiologic testing
molecular genetic testing (SLC12A6)
magnetic resonance imaging (MRI) of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis)

Treatment
There is currently no cure, but some symptoms may be treated such as neuroleptics for the psychiatric problems. Prognosis
The prognosis is poor. Patients are usually wheelchair bound by their 20s and die by their 30s. Prevalence
The prevalence rate has been estimated to be less than 1/1,000,000 worldwide.
However, it is much more common in the French-Canadian population of the Saguenay and Lac-St-Jean regions of Quebec, Canada, where it has a frequency of about 1 in 2100 in live births, and a carrier rate of 1 in 23. References
External links
Andermann syndrome at OMIM
Andermann syndrome at Orpha.net
Andermann syndrome at GARD