Belt dystrophy 2L

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

The limb-2L (LGMD2L) is an inherited disease from the group of limb-girdle muscular dystrophy . The LGMD2L is caused by mutations in ANO5 gene (human chromosome 11, 11p14.3) gives and autosomal - recessive inherited. ANO5 codes for the protein anoctamine-5 . The protein likely plays an important role in the development of the muscular and skeletal systems. It is believed that anoctamine-5, like other anoctamines, is a calcium-dependent chloride channel. The exact function of the protein is not known.

Men seem to be affected more often and more severely than women. A significantly increased creatine kinase is typical of the LGMD2L . In a 2012 study, for example, it was increased between 20 and 50 times. The more recent case studies from 2012 suggest a very variable phenotype , while previously an asymmetrical quadriceps femoris muscle and an atrophied biceps brachii muscle were considered typical. The mutations found so far extend over the entire gene. There is no definite association between the location of the mutation and the phenotype.

A causal therapy is not known as the other inherited limb-girdle muscular dystrophy, so symptomatic measures such as physiotherapy are at the forefront.

Homozygous ANO5 mutations other than those that cause LGMD2L can cause another muscle disease from the group of distal muscular dystrophies ; Miyoshi muscular dystrophy 3 (MDD3) heterozygous mutations in the ANO5 gene, on the other hand, do not lead to a muscle disease, but to a disease of the Skeletal system of the gnathodiaphyseal dysplasia (GDD).

literature

• A. Sarkozy, M. Deschauer, RY Carlier et al .: Muscle MRI findings in limb girdle muscular dystrophy type 2L. In: Neuromuscular disorders: NMD. Volume 22 Suppl 2, October 2012, pp. S122-S129, ISSN  1873-2364 . doi: 10.1016 / j.nmd.2012.05.012 . PMID 22980763 .
• J. Schessl, W. Kress, B. Schoser: Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. In: Muscle & nerve. Volume 45, Number 5, May 2012, pp. 740-742, ISSN  1097-4598 . doi: 10.1002 / mus.23281 . PMID 22499103 .
• S. Penttilä, J. Palmio, T. Suominen et al .: Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. In: Neurology. Volume 78, Number 12, March 2012, pp. 897-903, ISSN  1526-632X . doi: 10.1212 / WNL.0b013e31824c4682 . PMID 22402862 .
• M. Deschauer, PR Joshi, D. Glasses et al .: Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. In: The neurologist. Volume 82, Number 12, December 2011, pp. 1596-1603, ISSN  1433-0407 . doi: 10.1007 / s00115-011-3325-4 . PMID 21739273 .
• AA Amato: Other limb-girdle muscular dystrophies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, May 24, 2011, ISBN 978-0-08-045031-5 , p. 122.
• D. Hicks, A. Sarkozy et al .: A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. In: Brain: a journal of neurology. Volume 134, Pt 1, January 2011, pp. 171-182, ISSN  1460-2156 . doi: 10.1093 / brain / awq294 . PMID 21186264 .
• I. Mahjneh, J. Jaiswal et al.: A new distal myopathy with mutation in anoctamin 5. In: Neuromuscular disorders: NMD. Volume 20, Number 12, December 2010, pp. 791-795, ISSN  1873-2364 . doi: 10.1016 / j.nmd.2010.07.270 . PMID 20692837 .
• V. Bolduc, G. Marlow et al .: Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. In: American Journal of Human Genetics . Volume 86, Number 2, February 2010, pp. 213-221, ISSN  1537-6605 . doi: 10.1016 / j.ajhg.2009.12.013 . PMID 20096397 . PMC 2820170 (free full text).

Individual evidence

1. ↑ ^{a b} V. Bolduc, G. Marlow et al .: Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. In: American Journal of Human Genetics . Volume 86, Number 2, February 2010, pp. 213-221, ISSN  1537-6605 . doi: 10.1016 / j.ajhg.2009.12.013 . PMID 20096397 . PMC 2820170 (free full text).
2. ↑ Anoctamine-5.  In: Online Mendelian Inheritance in Man . (English)
3. ↑ M. Deschauer, PR Joshi, D. Glasses et al .: Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings. In: The neurologist. Volume 82, Number 12, December 2011, pp. 1596-1603, ISSN  1433-0407 . doi: 10.1007 / s00115-011-3325-4 . PMID 21739273 .
4. ↑ ^{a b c} J. Schessl, W. Kress, B. Schoser: Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. In: Muscle & nerve. Volume 45, Number 5, May 2012, pp. 740-742, ISSN  1097-4598 . doi: 10.1002 / mus.23281 . PMID 22499103 .
5. ↑ ^{a b c d} S. Penttilä, J. Palmio, T. Suominen et al .: Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. In: Neurology. Volume 78, Number 12, March 2012, pp. 897-903, ISSN  1526-632X . doi: 10.1212 / WNL.0b013e31824c4682 . PMID 22402862 .
6. ↑ D. Hicks, A. Sarkozy et al .: A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. In: Brain: a journal of neurology. Volume 134, Pt 1 January 2011, pp. 171-182, ISSN  1460-2156 . doi: 10.1093 / brain / awq294 . PMID 21186264 .
7. ↑ MDD3.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ GDD.  In: Online Mendelian Inheritance in Man . (English)

Web links

• LGMD2L.  In: Online Mendelian Inheritance in Man . (English)

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 !