Belt dystrophy 2P

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

The limb-2P (LGMD2P) 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 C9 (Engl. Limb-Girdle Muscular Dystrophy Type Dystroglycanopathy C9 , MDDGC9 ), respectively.

root cause

The LGMD2P is caused by mutations in DAG1 gene causes and autosomal - recessive inherited. The DAG1 gene codes for the protein dystroglycan . LGMD2P belongs to the large group of dystroglycanopathies (MDDGC). The genetic defect was first detected in 2011 in a Turkish patient described in 2003. So far there have been no further case reports except for the Turkish patient described . The mutation is so far (as of October 2013) the only known one in the DAG1 gene. All other dystroglycanopathies are caused by mutations in genes or their gene products that are directly or indirectly involved in the glycosylation of alpha-dystroglycan.

Clinical picture

The disease has so far (as of 2013) been detected in a Turkish patient who has been suffering from an increasing limb girdle dystrophy with mental retardation since the age of 3 . At the age of 16 the patient could still walk 25 to 30 meters and the intelligence quotient was 50. Joint contractures and an enlarged calf were also detectable. The concentration of creatine kinase was significantly increased (> 20-fold) and the magnetic resonance imaging showed no abnormalities. The muscle biopsy showed not only dystrophic changes but also a reduction in glycosylated alpha-dystroglycan .

Individual evidence

^ 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 .
↑ ^a ^b MDDGC9. In: Online Mendelian Inheritance in Man . (English), revised version from July 31, 2013
↑ ^a ^b Y. Hara, B. Balci-Hayta and a .: A dystroglycan mutation associated with limb-girdle muscular dystrophy. In: The New England Journal of Medicine . Volume 364, Number 10, March 2011, pp. 939-946, ISSN 1533-4406 . doi : 10.1056 / NEJMoa1006939 . PMID 21388311 . PMC 3071687 (free full text).
↑ P. Dinçer, B. Balci et al. a .: A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. In: Neuromuscular disorders: NMD. Volume 13, Number 10, December 2003, pp. 771-778, ISSN 0960-8966 . PMID 14678799 .

[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 .

[MDDGC9-2] MDDGC9. In: Online Mendelian Inheritance in Man . (English), revised version from July 31, 2013

[Hara-3] Y. Hara, B. Balci-Hayta and a .: A dystroglycan mutation associated with limb-girdle muscular dystrophy. In: The New England Journal of Medicine . Volume 364, Number 10, March 2011, pp. 939-946, ISSN 1533-4406 . doi : 10.1056 / NEJMoa1006939 . PMID 21388311 . PMC 3071687 (free full text).

[4] P. Dinçer, B. Balci et al. a .: A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. In: Neuromuscular disorders: NMD. Volume 13, Number 10, December 2003, pp. 771-778, ISSN 0960-8966 . PMID 14678799 .