Limb girdle dystrophy 1H
| Classification according to ICD-10 | |
|---|---|
| G71.0 | Muscular dystrophy - pelvic or shoulder girdle shape |
| ICD-10 online (WHO version 2019) | |
The limb-1H (LGMD1H) is a very rare genetic disease from the group of limb-girdle muscular dystrophy , the autosomal - dominant inherited.
The disease has so far only been described in members of a southern Italian family in 4 generations. The causative gene has not yet been identified. A region on the short arm of chromosome 3 (3p25.1-p23) was identified by genome-wide linkage analyzes and subsequent haplotype analysis.
The disease manifests itself in 5 of the affected family members in adulthood between the ages of 39 and 50. Clinical evidence showed progressive proximal muscle weakness with muscle atrophy , calf hypertrophy, hyporeflexia and increased creatine kinase . Some younger family members had calf hypertrophy but no muscle weakness. Electromyography showed unspecific myopathic changes. The muscle biopsy revealed evidence of impaired function of the mitochondria.
Web links
- LGMD1H. In: Online Mendelian Inheritance in Man . (English)
literature
- L. Bisceglia, S. Zoccolella et al. a .: A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. In: European journal of human genetics Volume 18, Number 6, June 2010, pp. 636-641, ISSN 1476-5438 . doi : 10.1038 / ejhg.2009.235 . PMID 20068593 . PMC 2987336 (free full text).
Individual evidence
- ↑ a b c LGMD1H. In: Online Mendelian Inheritance in Man . (English), last accessed on December 29, 2011
