Congenital muscular dystrophy

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Classification according to ICD-10
G71.2 Congenital myopathies
ICD-10 online (WHO version 2019)

The congenital muscular dystrophies ( English congenital muscular dystrophies, CMD or MDC for short ) are a group of muscle diseases that belong to the muscular dystrophies . These are inherited disorders that mostly autosomal - recessive inherited. The clinical manifestations are very variable (heterogeneous). The common clinical features of congenital muscular dystrophies are muscle weakness that exists from birth ( congenitally ) with hypotonia and delayed motor development. Characteristics of muscular dystrophy can be demonstrated histologically . In addition to the muscles, the brain and eye in particular can be involved. The congenital muscular dystrophies differ from the congenital myopathies with structural anomalies in the absence of ultrastructural changes in the muscle fibers. The Congenital Muscular be predominantly autosomal - recessive inherited.

classification

There are several ways of classifying congenital muscular dystrophies. In most diseases of this group, the genes and gene products involved have been identified, so that a genetic classification of the congenital muscular dystrophies is possible. A gene table of the associated diseases is published regularly in the journal Neuromuscular Disorders . The current publication is from 2009, which is also freely available as an HTML version supplemented by links.

Hereditary disease Synonyms / phenotypes Inheritance OMIM gene Locate Gene product
Congenital Muscular Dystrophy 1A (MDC1A) + Congenital merosin deficiency
* Merosinopathy
* Classic congenital muscular dystrophy with merosin deficiency 		autosomal recessive 607855 LAMA2 6q22-23 Laminin -α2 (merosin)
Congenital Muscular Dystrophy 1B (MDC1B) Congenital muscular dystrophy with secondary merosin deficiency type 1 autosomal recessive 604801 not known 1q42 not known
Congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type A1 (MDDGA1) Walker-Warburg syndrome or muscle-eye-brain disease , POMT1-associated autosomal recessive 236670 POMT1 9q34.1 Protein-O-mannosyltransferase 1 (POMT1)
Congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type A2 (MDDGA2) Walker-Warburg syndrome or muscle-eye-brain disease , POMT2-associated autosomal recessive 613150 POMT2 14q24.3 Protein-O-Mannosyltransferase 2 (POMT2)
Congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type A3 (MDDGA3) * Santavuori congenital muscular dystrophy
* Walker-Warburg syndrome or muscle-eye-brain disease , POMGNT1-associated 		autosomal recessive 253280 POMGNT1 1p34.1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1)
Congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type A4 (MDDGA4) * Fukuyama type congenital muscular dystrophy (FCMD)
* Walker-Warburg syndrome or muscle-eye-brain disease , FKTN-associated 		autosomal recessive 253800 FKTN 9q31.2 Fukutin
Congenital muscular dystrophy dystroglycanopathy with malformations of the brain and eyes type A5 (MDDGA5) Walker-Warburg syndrome or muscle-eye-brain disease , FKRP-associated autosomal recessive 613153 FKRP 19q13.32 Fukutin-related protein (FKRP)
Congenital muscular dystrophy-dystroglycanopathy with malformations of the brain and eyes type A6 (MDDGA6) Walker-Warburg syndrome or muscle-eye-brain disease , LARGE-associated autosomal recessive 613154 LARGE 22q12.3 Glycosyltransferase-like protein LARGE1 (LARGE1)
Congenital muscular dystrophy dystroglycanopathy with mental retardation type B1 (MDDGB1) Congenital muscular dystrophy, POMT1-associated autosomal recessive 613155 POMT1 9q34.13 Protein O-mannosyl transferase 1 (POMT1)
Congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2 (MDDGB2) Congenital muscular dystrophy, POMT2-associated autosomal recessive 613156 POMT2 14q24.3 Protein O-mannosyl transferase 2 (POMT2)
Congenital muscular dystrophy dystroglycanopathy with mental retardation type B3 (MDDGB3) Congenital muscular dystrophy, POMGNT1-associated autosomal recessive 613151 POMGNT1 1p34.1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1)
Congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 (MDDGB4) Congenital muscular dystrophy, FKTN-associated autosomal recessive 613152 FKTN 9q31.2 Fukutin
Congenital muscular dystrophy-dystroglycanopathy type B5 (MDDGB5) Congenital muscular dystrophy 1C (MDC1C)
* Congenital muscular dystrophy with secondary merosin deficiency type 2
Congenital muscular dystrophy, associated with FKRP 		autosomal recessive 606612 FKRP 19q13.32 Fukutin-related protein (FKRP)
Congenital muscular dystrophy dystroglycanopathy with mental retardation type B6 (MDDGB6) | Congenital muscular dystrophy type 1D (MDC1D)
Congenital muscular dystrophy, LARGE-associated 		autosomal recessive 608840 LARGE 19q13.32 Glycosyltransferase-like protein LARGE1
Congenital muscular dystrophy with rigid spine Rigid Spine Muscular Dystrophy
Rigid Spine Syndrome 		autosomal recessive 602771 SEPN1 1p36.11 Selenoprotein N1
Congenital muscular dystrophy with LMNA mutation autosomal recessive 613205 LMNA 1q22 Lamin A / C
Ullrich type congenital muscular dystrophy (UCMD) autosomal recessive and autosomal dominant 254090 COLA1
COLA2
COLA3 		21q22.3
21q22.3
2q37.3 		Collagen alpha-1
Collagen alpha-2
Collagen alpha-3
Congenital muscular dystrophy with integrin alpha-7 deficiency autosomal recessive 613204 ITGA7 12q13 Integrin alpha-7
Congenital muscular dystrophy with familial epidermolysis bullosa simplex autosomal recessive 226670 PLEC1 8q24.3 Plectine
Congenital muscular dystrophy with joint hyperlaxity autosomal recessive not listed not known 3p23-21 not known
Congenital muscular dystrophies

frequency

There is little data on the incidence of congenital muscular dystrophies. The number of new cases per year (incidence) was estimated at 1: 21,500 in northeastern Italy and 1: 16,000 in western Sweden.

Clinical manifestations

In addition to muscle weakness, muscle hypotonia , also existing from birth , which is also known as floppy infant , is typical . In addition, contractures and joint deformities can also exist from birth .

See also

Individual evidence

  1. ^ A b Susan E. Sparks, Diana M. Escolar: Congenital muscular dystrophies . I .: Robert Griggs: Muscular Dystrophies. 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 47. (Handbook of Clinical Neurology, Volume 101)
  2. ↑ a b U. C. Reed: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. In: Arquivos de neuro-psiquiatria Volume 67, Number 1, March 2009, pp. 144-168, ISSN  1678-4227 . PMID 19330236 . (Review).
  3. ^ A b F. Jerusalem, S. Zierz: Muscle Diseases . 3. Edition. Thieme-Verlag, 2003, ISBN 3-13-567803-2 , p. 125.
  4. ^ Anthony A. Amato, Robert C. Griggs: Overview of the muscular dystrophies . In: Robert Griggs: Muscular Dystrophies. 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 2. (Handbook of Clinical Neurology, Volume 101)
  5. ^ JC Kaplan: Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009. In: Neuromuscular disorders: NMD Volume 19, number 1, January 2009, pp. 77-98, ISSN  0960-8966 . PMID 19320066 .
  6. ↑ Online version of the gene table of neuromuscular diseases regularly updated by the journal Neuromuscular disorders , last accessed on September 10, 2011
  7. ^ A b F. Jerusalem, S. Zierz: Muscle Diseases . 3. Edition. Thieme-Verlag, 2003, ISBN 3-13-567803-2 , p. 127.
  8. ↑ M. Tétreault, A. Duquette et al. a .: A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. In: Brain: a journal of neurology. Volume 129, Pt 8, August 2006, pp. 2077-2084, ISSN  1460-2156 . doi: 10.1093 / brain / awl146 . PMID 16760198 .
  9. ↑ Susan E. Sparks, Diana M. Escolar: Congenital muscular dystrophies . In: Robert Griggs: Muscular Dystrophies. 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 49. (Handbook of Clinical Neurology, Volume 101)