Belt dystrophy 2I
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-2I (LGMD2I, New: LGMD R9) is a very rare disease from the group of limb-girdle muscular dystrophy .
Cause and development of the disease
The LGMD2I is caused by mutations in FKRP gene causes in humans (chromosome 19q13.3) and autosomal - recessive inherited. The age of onset is between 6 and 40 years with varying degrees of severity.
Clinical manifestations
Clinically, the disease is characterized by muscle weakness in the pelvic and shoulder girdle area, and sometimes myalgia occurs.
Investigation methods
The creatine kinase in the serum can be slightly to significantly increased. The conversion of the muscles to fatty tissue can be demonstrated in the MRI . The diagnosis is confirmed by molecular genetics .
treatment
A causal therapy is not known, so symptomatic measures such as physiotherapy are in the foreground.
literature
- AA Amato: Other limb-girdle muscular dystrophies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Series 3, Volume 101). Elsevier, 2011, ISBN 978-0-08-045031-5 .
- E. Gordon, E. Pegoraro, EP Hoffman: Limb-Girdle Muscular Dystrophy Overview. In: Gene Reviews. June 8, 2000, last change August 30, 2012, (full text version, English, freely available) .
- S. Rauch-Shorny: Genetics of Neuromuscular Diseases: A Selection. In: Journal of Neurology, Neurosurgery and Psychiatry. Volume 7, No. 4, 2006, pp. 43–56, (PDF version, German, freely available) .
Individual evidence
Web links
- LGMD2I. In: Online Mendelian Inheritance in Man . (English)
- Global FKRP Registry (German)
