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A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia. Tubular aggregate myopathy with symptomatic smooth muscle dysfunction and skeletal deformities has not been described before.
Tubular aggregates are inclusions within muscle fibres formed from the terminal cisterns of the sarcoplasmic reticulum. (1) They are observed in a range of specific neuromuscular conditions in which they are the main myopathic feature, including familial limb girdle myasthenia, (1-4) exercise induced myalgia, (1 5-10) and gyrate atrophy of the choroid and retina. (11) They are also found in various other disorders in which they are inconsistently present and are often a minor part of the overall myopathology. These include periodic paralysis, (12-14) paramyotonia, (15) and metabolic myopathies (notably ethanol induced myopathy (16-18)). In addition, they may be features in patients with idiopathic and congenital myopathies. (19) The pathological significance of tubular aggregates is unknown; however, an attractive hypothesis is that they are a response of the sarcoplasmic reticulum to injuries affecting excitation--contraction coupling or calcium flux. (1)
We describe a patient with a novel tubular aggregate myopathy characterised by progressive weakness with prominent contractures, pupillary muscle involvement, and skeletal abnormalities.
A 51 year old man presented with weakness in his arms and legs developing over four years. He was born a normal full term delivery and had normal early motor milestones. He reported that he had always tired of physical work more quickly than his peers and that he had avoided sport from childhood, as he had always become rapidly fatigued. Over the last four years he had noticed increasing difficulty in walking, lifting heavy objects, and manipulating objects in his hands. The weakness was associated with aching in his muscles. He had dysphagia for solids and there had been a change in the quality of his voice. In …