Belt dystrophy 2O

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

The limb-2O (LGMD2O) is a very rare disease from the group of limb-girdle muscular dystrophy . According to the classification of Online Mendelian Inheritance in Man of 2011, the disease is also called limb girdle muscular dystrophy type Dystroglykanopathie C3 (Engl. Limb-Girdle Muscular Dystrophy Type Dystroglycanopathy C4 , MDDGC3 ), respectively. The LGMD2O is caused by a mutation in POMGnT1 gene causes and autosomal - recessive inherited. POMGNT1 codes for an enzyme called protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, which is involved in the glycosylation of α-dystroglycan . The disease is therefore also counted among the dystroglycanopathies .

So far there is only one case report from one Irish patient. This patient showed proximal muscle weakness (limb belt type) with first manifestation at age 12 and rapid progression, as well as myopia .

Mutations in the POMGNT1 gene can lead to a broad clinical spectrum with different phenotypes ( allelic diseases ). In addition to LGMD2O, the mildest but also the rarest form, congenital muscular dystrophies can also occur, the clinical course of which is significantly more severe. In congenital muscular dystrophy dystroglycanopathy with mental retardation type B3 (MDDGB3), the disease already begins congenitally . It is characterized by girdle dystrophy, myopia, optic atrophy , increased creatine kinase and structural brain changes associated with mental retardation. The congenital muscular dystrophies POMGNT1-associated Walker-Warburg syndrome and POMGNT1-associated muscle-eye-brain disease are even more severely affected. These phenotypes are summarized in the OMIM catalog as Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A3 (MDDGA3).

further reading

• EM Clement, C. Godfrey, et al. a .: Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. In: Archives of Neurology . Volume 65, Number 1, January 2008, pp. 137-141, ISSN  0003-9942 . doi: 10.1001 / archneurol.2007.2 . PMID 18195152 .
• C. Godfrey, E. Clement, et al. a .: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. In: Brain: a journal of neurology. Volume 130, Pt 10 October 2007, pp. 2725-2735, ISSN  1460-2156 . doi: 10.1093 / brain / awm212 . PMID 17878207 .

Web links

• Online version of the gene table of neuromuscular diseases regularly updated by the journal Neuromuscular disorders , last accessed on October 31, 2011

Individual evidence

1. ^ J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation Volume 32, Number 5, May 2011, pp. 564-567, ISSN  1098-1004 . doi: 10.1002 / humu.21466 . PMID 21472891 .
2. ↑ ^{a b c} MDDGC3.  In: Online Mendelian Inheritance in Man . (English)
3. ↑ MDDGB3.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ MDDGA3.  In: Online Mendelian Inheritance in Man . (English)

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