Prognosis
Onset of first symptom has been reported between 1–12 years, with a mean age of onset at 8 years. Genetic expression is either an autosomal dominant or an autosomal recessive type. Clinical course can be divided into early (< 6 yrs age, predominance of respiratory symptoms) and late course (6–20 years of age, predominance of motor symptoms on superior limbs). Progression to involve other cranial nerve muscles occurs over a period of months or years. In the Gomez review facial nerve was affected in all cases while hypoglossal nerve was involved in all except one case. Other cranial nerves involved were vagus, trigeminal, spinal accessory nerve, abducent, occulomotor and glossopharyngeal in this order. Corticospinal tract signs were found in 2 of the 14 patients.
The disease may progress to patient's death in a period as short as 9 months or may have a slow evolution or may show plateaus. Post mortem examination of cases have found depletion of nerve cells in the nuclei of cranial nerves. The histologic alterations found in patient with Fazio-Londe disease were identical to those seen in Werdnig-Hoffman syndrome. Fazio-Londe disease, infantile progressive spinal muscular atrophy (Werdnig-Hoffman syndrome), Juvenile progressive spinal muscular atrophy (Kugelberg-Welander disease), Brown-Vialetto-Van Laere syndrome (BVVL) and the juvenile type of slowly progressive bulbar palsy, all have been considered variants of chronic progressive disease of lower motor neurons.
To date, there is no test of confirmation for Fazio-Londe disease, although researchers are currently searching to isolate the responsible gene.
Read more about this topic: Fazio-Londe Disease