Key result
Advances in molecular genetics have identified gene lesions responsible for several distal myopathies, expanding the understanding of their genetic relationships to other inherited muscle disorders.
This review provides an overview of the clinical features and genetic basis of distal myopathies, aiding in their identification and understanding.
May refine neuromuscular diagnostics; leaves open prospective validation of genotype-phenotype links and therapies.
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, there 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 summarizes current knowledge of the clinical and molecular aspects of the distal myopathies.
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Saperstein et al. (2001) conducted a review in Distal myopathies. Advances in molecular genetics have identified gene lesions responsible for several distal myopathies, expanding the understanding of their genetic relationships to other inherited muscle disorders.
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