Belt dystrophy 1F
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-1F (LGMD1F) is a very rare genetic disease from the group of limb-girdle muscular dystrophy , the autosomal - dominant inherited.
The disease has been described in 5 generations in 32 members of an extended Spanish family. The causative gene has not yet been identified. A region on the long arm of chromosome 7 (7q32.1-q32.2) was identified by genome-wide linkage analyzes. No mutations were found in the candidate gene Filamin C (FLNC) in this region . An anticipation was observed .
Clinical picture
The disease manifests itself either before the age of 15 or between the ages of 30 and 50. Clinically, the disease is characterized by proximal muscle weakness and atrophy . The pelvic girdle is stronger and involved earlier than the shoulder girdle . In the juvenile form, the respiratory muscles were partly involved. Involvement of the heart muscles, contractures , swallowing disorders or calf hypertrophy were not observed. The creatine kinase in the serum can be normal or increased up to 20-fold.
Web links
- LGMD1F. In: Online Mendelian Inheritance in Man . (English)
literature
- DN Messina, MC Speer u. a .: Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. In: American Journal of Human Genetics . Volume 61, Number 4, October 1997, pp. 909-917, ISSN 0002-9297 . doi: 10.1086 / 514896 . PMID 9382102 . PMC 1715999 (free full text).
Individual evidence
- ↑ a b LGMD1F. In: Online Mendelian Inheritance in Man . (English), last accessed on December 28, 2011.
- ^ A b J. Finsterer: Girdle dystrophies. In: J Neurol Neurochir Psychiatr. 2005; 6 (2), pp. 15-22. PDF version
