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Clinical and Genetic Aspects of Distal Myopathies Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001 See this aricle in Pubmed Article Abstract Although most muscle disorders produce proximal weakness, some myopathies may manifest predominantly or exclusively distal weakness. Although several congenital, inflammatory, or metabolic myopathies may produce mainly distal weakness, ther e are several distinct entities, typically referred to as distal myopathies. Most of these are inherited conditions. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Advances in molecular genetics have led to the identification of the gene lesions responsible for several of these entities and have also expanded our understanding of the genetic relationships of distal myopathies to other inherited disorders of muscle. This review summariz es current knowledge of the clinical and molecular aspects of the distal myopathies.

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