Bulbospinal syndromes

Bulbospianl syndromes (BSSs) belong to category on neuromusculardisorders known as motor neuron diseases (MND). As a definition for BSSsthey are a group of genetic disorders that mainly show up in childhood andsometimes latter on.The primary manifestation of BSSs is weakness and atrophy in bulbar muscleswith or without involving limbs. There are several distinctive diseasesassociated with BSSs. The most prominent are Brown-Vialetto-Van Laere(BVVL) or FozioLonde (FL), and Kennedy’s disease (KD) all of which are rarethough.KD is a prototype of polyglutamine disease that is result from the CAG repeatsexpansion and is inherited as X-linked recessive genetic disease. The mostsignificant clinical feature of KD is bulbar and facial weakness as well asproximal weakness in lower limbs.The earliest description of BVVL dates back to more than a century. But thegenetic basis of the disease was just discovered during the past decade. So farat lest 23 mutations have been reported in SLC52A3 gene, which isresponsible for BVVL. In terms of pathophysiology it seems that there is astrong link between BVVL and defect in riboflavin transposrters. The mainclinical feature of BVVL and FL is lower cranial nerves palsy with pronouncedatrophy and fasiculation. As far as clinical manifestations are concerned FL isalmost identical to BVVL, except for intact auditory function. Fortunatelyunlike KD there are some measures we can take to modify the course of BVVLby administrating riboflavin.