Fazio-Londe disease

To date, there is no test of confirmation for Fazio-Londe disease, although researchers are currently searching to isolate the responsible gene.

From India, Reddy and Murthy first reported a Fazio-Londe disease case in 1982.

The other two siblings showed symptoms of Fazio-Londe disease and died before the age of two (Dipti 2005).

Fazio-Londe disease, also called progressive bulbar palsy of childhood, is an inherited motor neuron disease found in children and young adults.

It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.

The histologic alterations found in patient with Fazio-Londe disease were identical to those seen in Werdnig-Hoffman syndrome.

While no autopsy on the child was performed, researchers are hoping that the unusual symptoms in this case and other similar cases can be used to provide a link between BVVL syndrome and Fazio-Londe disease (Voudris 2002).