Muscle and brain disease: an update

Abstract

A number of syndromes included under this rubric are considered, and their main features discussed. The congenital muscular dystrophy of the Fukuyama type as it occurs in Japan and in the western world are almost certainly the same condition. The muscle disorder is associated with cerebral lesions which may be due to an arrest of neural migration or to demyelination. Muscle, eye and brain disease, or Santavuori's syndrome, shows ocular abnormalities, as well as those of the muscle and brain, as does the Walker-Warburg syndrome. In the latter disorder the cerebral lesions tend to be more severe, and it is more rapidly fatal. The manifestations of all these syndromes undoubtedly overlap, but there has been controversy on the question of their identity. Are they separate entities, or are they different expressions of a similar genetic disorder? The genes for all these conditions will have to be isolated to see if the different phenotypes are alleles of the same gene, or not. Some of the arguments, for and against, are presented.