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Clinical and genetic aspects of distal myopathies
Author(s) -
Saperstein David S.,
Amato Anthony A.,
Barohn Richard J.
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.1167
Subject(s) - weakness , proximal muscle weakness , medicine , muscle weakness , identification (biology) , pathology , biology , anatomy , muscle biopsy , biopsy , botany
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. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1440–1450, 2001