[Slowly progressive myopathy with accumulation of tubular aggregates]

Abstract

Slowly progressive myopathy with tubular aggregates is rare and dominantly or recessively inherited. Three sporadic cases are reported in the present study occurring in 2 men and 1 young woman. All patients had proximal limb weakness without severe atrophy. They also complained of exercise-induced stiffening and cramps of their leg muscles. In 1 case severe cardiomyopathy caused unfavorable clinical course and death. Serum creatine kinase activity was normal and electromyogram showed only slight myopathic changes. Tubular aggregates were found to be the sale morphological abnormality. They were present in type II fibres in 1 case and in type I and type II fibres in the others. An immunocytological study with a polyclonal antibody against Ca2+ SR-ATPase showed positivity of the tubular aggregates with this antibody. A quantitative analysis (SAMBA 2000 alcatel TITN) was carried out on frozen sections stained for calcium. It showed a lower calcium content in tubular aggregates than in other part of the fibre. Slowly progressive myopathy with tubular aggregates may be distinguished from other diseases where tubular aggregates are the sale structural change, such as myopathies with myasthenic features and some neuromuscular diseases with exercise intolerance without progressive course. Usually, tubular aggregates are not a specific finding; they have been described in various disorders in association with other structural changes.