Belt dystrophy 1E
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-1E (LGMD1E) is a very rare genetic disease from the group of limb-girdle muscular dystrophy , the autosomal - dominant inherited. The causative gene has not yet been identified. By linkage analysis , the gene has been searched on the long arm of chromosome 7 located (7q36). The disease is accompanied by paralysis of the muscles of the shoulder and pelvic girdles.
Clinical picture
The disease manifests itself in adulthood between the ages of 20 and 60. Clinically, the disease is characterized by proximal muscle weakness with muscular atrophy , which initially affects the pelvic girdle and then usually also affects the shoulder girdle . The affected patients develop a gait disorder (waddling gait). The respiratory and heart muscles are not involved.
Diagnosis
The creatine kinase in the serum is slightly increased. The electromyography and muscle biopsy show unspecific myopathic changes. In some cases, protein inclusions can be detected histologically.
nomenclature
The designation "LGMD1E" for this disease is not uniform in the medical literature. The name LGMD1D is often used for this muscle disease , so that there can be confusion between the two forms.
Web links
- LGMD1E. In: Online Mendelian Inheritance in Man . (English)
literature
- S. Sandell, S. Huovinen, et al. a .: The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. In: Journal of Neurology, Neurosurgery, and Psychiatry . Volume 81, Number 8, August 2010, pp. 834-839, ISSN 1468-330X . doi : 10.1136 / jnnp.2009.192351 . PMID 20682716 .
- P. Hackman, S. Sandell, J. Sarparanta, H. Luque, S. Huovinen, J. Palmio, A. Paetau, H. Kalimo, I. Mahjneh, B. Udd: Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. In: Neuromuscular disorders: NMD. Volume 21, Number 5, May 2011, pp. 338-344, ISSN 1873-2364 . doi : 10.1016 / j.nmd.2011.02.008 . PMID 21376592 .
Individual evidence
- ↑ a b c LGMD1E. In: Online Mendelian Inheritance in Man . (English), last accessed on December 28, 2011
