Belt dystrophy 2M

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

The limb-2M (LGMD2M) 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 C4 (Engl. Limb-Girdle Muscular Dystrophy Type Dystroglycanopathy C4 , MDDGC4 ), respectively.

root cause

The LGMD2M is caused by mutations in Fukutin gene causes and autosomal - recessive inherited. The Fukutin gene codes for a transmembrane protein , the function of which has not yet been determined with certainty. It is believed to be involved in the glycosylation of α-dystroglycan . Accordingly, it is assumed that mutations in the Fukutin gene disrupt the glycosylation. The disease is therefore also included in the group of dystroglycanopathies .

Clinical manifestations

The clinical picture is variable. Mild girdle dystrophy and / or cardiomyopathy may develop, or the disease is asymptomatic except for an increase in creatine kinase (hyperCKemia). Structural malformations or mental retardation usually do not exist. The onset of illness is in childhood.

Diagnosis

The disease can be confirmed by molecular genetics, i.e. by detecting certain mutations in the fukutin gene .

Demarcation

Mutations in the Fukutin gene can lead to a broad clinical spectrum with different phenotypes ( allelic diseases ). In addition to LGMD2M, the mildest form, congenital muscular dystrophies can also occur, the clinical course of which is significantly more severe. In congenital muscular dystrophy dystroglycanopathy without mental retardation type B4 (MDDGB4), the disease begins congenitally . It is characterized by limb-belt dystrophy and white matter changes . With the congenital muscular dystrophies Fukutin-associated Walker-Warburg syndrome and Fukutin-associated muscle-eye-brain disease (also congenital muscular dystrophy type Fukuyama), the patients are affected even more severely. In addition to the congenital onset of muscular dystrophy, severe malformations of the brain and eyes, mental retardation and epileptic seizures also occur. These phenotypes are summarized in the OMIM catalog as Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A4 (MDDGA4).

further reading

  • 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 .
  • C. Godfrey, D. Escolar, et al. a .: Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. In: Annals of neurology. Volume 60, Number 5, November 2006, pp. 603-610, ISSN  0364-5134 . doi: 10.1002 / ana.21006 . PMID 17044012 .
  • RL Puckett, SA Moore u. a .: Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. In: Neuromuscular disorders: NMD. Volume 19, Number 5, May 2009, pp. 352-356, ISSN  1873-2364 . doi: 10.1016 / j.nmd.2009.03.001 . PMID 19342235 . PMC 2698593 (free full text).
  • S. Vuillaumier-Barrot, S. Quijano-Roy et al. a .: Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. In: Neuromuscular disorders: NMD. Volume 19, Number 3, March 2009, pp. 182-188, ISSN  1873-2364 . doi: 10.1016 / j.nmd.2008.12.005 . PMID 19179078 .
  • U. Yis, G. Uyanik et al. a .: Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. In: Neuromuscular disorders: NMD. Volume 21, Number 1, January 2011, pp. 20-30, ISSN  1873-2364 . doi: 10.1016 / j.nmd.2010.08.007 . PMID 20961758 .

Web links

Individual evidence

  1. ^ A b Anthony A. Amato: Other limb-gridle muscular dystrophies . I .: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 120.
  2. ^ 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 .
  3. ↑ a b c MDDGC4.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ MDDGB4.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ MDDGA4.  In: Online Mendelian Inheritance in Man . (English)