Spheroid body myopathy
| Classification according to ICD-10 | |
|---|---|
| G71.8 | Other primary myopathies |
| ICD-10 online (WHO version 2019) | |
The spheroid body myopathy (engl. Spheroid body myopathy ) is a very rare, hereditary muscular disease belonging to the group of myofibrillar myopathy belongs. The disease is caused by a "missense" - mutation in MYOT gene causes and autosomal - recessive inherited. MYOT codes for the protein myotilin . Age of manifestation and clinical picture are very variable, even within affected families.
Spheroid body myopathy is differentiated from two other myotilinopathies ( myofibrillary myopathy 3 , girdle dystrophy 1A ).
Clinical picture
Spheroid body myopathy is characterized by slowly progressing symmetrical muscle weakness in the pelvic and shoulder girdle area . Often, however, distal muscles are also involved. Speech disorders ( dysarthria ) and respiratory insufficiency have also been described.
Diagnosis
The creatine kinase in the blood serum is usually normal. Nonspecific myopathic changes can be detected electromyographically . The histological changes in the muscle tissue obtained by a muscle biopsy are typical. Inclusions can be detected below the cell membrane of the muscle cells (subsarcolemmal) that do not react in the PAS staining . They contain eosinophilic material, desmin and ubiquitin .
Web links
Spheroid body myopathy. In: Online Mendelian Inheritance in Man . (English)
literature
- L. Broglio, M. Tentorio et al .: Limb-girdle muscular dystrophy-associated protein diseases. In: The neurologist. Volume 16, Number 6, November 2010, pp. 340-352, ISSN 1074-7931 . doi: 10.1097 / NRL.0b013e3181d35b39 . PMID 21150381 . (Review).
Individual evidence
- ↑ D. Selcen, AG Engel: Myofibrillar myopathies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 149.
- ↑ T. Foroud, N. Pankratz et al: A mutation in myotilin causes spheroid body myopathy. In: Neurology. Volume 65, Number 12, December 2005, pp. 1936-1940, ISSN 1526-632X . doi: 10.1212 / 01.wnl.0000188872.28149.9a . PMID 16380616 .
