| Popis: |
The inherited metabolic myopathies consist of a group of genetically determined muscular disorders, of varying severity, characterised by muscular weakness and associated with biochemical defects of muscle metabolism (Fig. 17.1). In some, a fixed or progressive myopathy develops, but in others there are recurrent episodes of muscular weakness, or cramps and stiffness associated with exercise; sometimes myoglobinuria occurs in these episodes. In many of these disorders there are features of involvement of other systems. The severity of the clinical syndrome often varies according to the age of onset, reflecting the severity and distribution of the enzyme deficiency, so that infantile and adult-onset types of a disorder may present with strikingly different clinical features. |
