Distal Myopathies

Abstract

The term distal myopathies refers to a group of primary genetic muscle diseases that share the clinical feature of causing predominantly distal weakness in the hands and/or feet early in the disease evolution. However, the range of phenotypic variability is large including both early childhood-onset forms and very late-onset forms. Both autosomal dominant and recessive genes are involved. The pathology is highly variable even though many of the diseases share the finding of rimmed vacuolation without major or prominent protein aggregations (as seen with desmin immunostaining). The number of distinct genetic disorders is expanding, and muscle imaging has become a well accepted diagnostic tool to aid and restrict the number of molecular genetic procedures.