Limb girdle dystrophy 1D

Classification according to ICD-10
G71.0	Muscular dystrophy - pelvic or shoulder girdle shape
ICD-10 online (WHO version 2019)

The limb-1D (LGMD1D) is a very rare genetic disease from the group of limb-girdle muscular dystrophy , the autosomal - dominant inherited.

The disease has been described in 4 generations in 25 members of an extended Italian family. In 2012, the causative mutation was found in the desmin gene.

Clinically, the disease is characterized by proximal muscle weakness and atrophy as well as dilated cardiomyopathy (CMD1F), cardiac arrhythmias and heart failure . Life expectancy is reduced due to the involvement of the heart.

The designation "LGMD1D" for this disease is not uniform in the medical literature. The name LGMD1E is often used for this muscle disease, so that there can be confusion between the two forms.

literature

• DN Messina, MC Speer et al .: 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

1. ↑ LGMD1D.  In: Online Mendelian Inheritance in Man . (English), accessed December 28, 2011.
2. ↑ LGMD1D.  In: Online Mendelian Inheritance in Man . (English), accessed September 20, 2013.
3. ↑ SA Greenberg, M. Salajegheh u. a .: Etiology of limb girdle muscular dystrophy 1D / 1E determined by laser capture microdissection proteomics. In: Annals of neurology. Volume 71, Number 1, January 2012, pp. 141-145, ISSN  1531-8249 . doi: 10.1002 / ana.22649 . PMID 22275259 .
4. ↑ J. Finsterer: Girdle dystrophies. In: J Neurol Neurochir Psychiatr. 2005; 6 (2), pp. 15-22. PDF version (Note: the disease is referred to as LGMD1E here.)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !