Tubular aggregate myopathy with abnormal pupils and skeletal deformities
- 1Department of Clinical Neurology, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
- 2Department of Neuropathology, Institute of Neurology and National Hospital for Neurology and Neurosurgery
- 3University Hospital, Queen’s Medical Centre, Nottingham, UK
- Correspondence to: Dr M G Hanna, Muscle Section, Institute of Neurology, Queen Square, London WC1N 3BG, UK; m.hanna{at}ion.ucl.ac.uk
- Received 1 February 2002
- Accepted 16 May 2002
- Revised 14 May 2002
Abstract
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.
