title: Slowly progressive proximal weakness: limb-girdle syndromes.
abstract: Many diseases of the motor unit result in slowly progressive limb-girdle weakness. Difficulty in diagnosis arises because many of these disorders share a similar genetic pattern, and some are heterogeneous. Most of the symptoms have such a broad range that they are of limited diagnostic value, and physical findings, even within families, often cover a wide spectrum. With a few exceptions, laboratory data are often of only limited diagnostic assistance. This review documents the need for a careful genetic, clinical, and laboratory evaluation in these disorders, affirms the importance of clinical observation, and identifies the most dependable clinical and laboratory findings.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007249:Inflammation; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D013577:Syndrome