Jump to content

Congenital muscular dystrophy

From Wikipedia, the free encyclopedia

This is an old revision of this page, as edited by Ora (talk | contribs) at 06:24, 19 May 2016 (Adding missing sp[ace between sentences in first line.). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.

Congenital muscular dystrophy
SpecialtyNeurology Edit this on Wikidata

Congenital muscular dystrophies is autosomal recessively inherited diseases which are a group of heterogeneous disorders. Characterised by the muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.[1][2]

Classification(Different types of Congenital muscular dystrophies)

The subtypes of congenital muscular dystrophy have been established through variations in multiple genes. It should be noted that phenotype, as well as, genotype classifications are used to establish the subtypes, in some literature.[1] Individuals who suffer from congenital muscular dystrophy fall into one of the following types:


  • CMD with brain-eye[2]
a rare form of congenital muscular dystrophy (autosomal
recessive disorder) causing a lack of normal
muscle tone which can delay walking due to being weak,
also paralysis of eye muscles and intellectual disability
which affects an individuals way of processing information[3]
2
2

Signs/symptoms

Muscle Atrophy

Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable.[1][17]

Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach this milestones in life. Some of the more rarer forms of CMD can result in significant learning disabilities, or mental adjotmnet.[medical citation needed]

Genetics

The genetics of congenital muscular dystrophy are autosomal recessive which means two copies of an abnormal gene must be present for the disease or trait to happen. In the case of collagen VI-deficient, it is autosomal dominant, which means you could inherit the gene in question from one parent.[1]

The prevalence for congenital muscular dystrophy seems to be between 2.6-4.5 in 10,000 according to Reed, 2009.[18] MDCIA , for example is due to a mutation in the LAMA-2 gene and is involved with the 6q2 chromosome.[19]

Diagnosis

Creatine kinase

In terms of the diagnosis on congenital muscular dystrophy, the following tests/exams are done:[20]

Management

In terms of the management of congenital muscular dystrophy the American Academy of Neurology recommends that the individuals need to have monitoring of cardiac function, respiratory, and gastrointestinal. Additionally it is believed that therapy in speech , orthopedic and physical areas, would improve the persons quality of life.[21]

While there is currently no cure available, it is important to preserve muscle activity and any available correction of skeletal abnormalities (as scoliosis).Orthopedic procedures, like spinal fusion, maintains/increases the individuals prospect for more physical movement.[21]

See also

References

Template:Research help

  1. ^ a b c d e f g h Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; Hoffman, Eric P.; Pegoraro, Elena (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Congenital Muscular Dystrophy Overview. Seattle (WA): University of Washington, Seattle. PMID 20301468.update 2012
  2. ^ a b c d e f g h i j k l m n o p q r s t u v w Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (2011-12-01). "Congenital Muscular Dystrophies: A Brief Review". Seminars in Pediatric Neurology. 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. ISSN 1071-9091. PMC 3332154. PMID 22172424.
  3. ^ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
  4. ^ http://www.omim.org/entry/608840?search=Large%20related%20CMD&highlight=large%20cmd%20related%20relatedness
  5. ^ Reference, Genetics Home. "Walker-Warburg syndrome". Genetics Home Reference. Retrieved 2016-04-26.
  6. ^ Quijano-Roy, Susana; Sparks, Susan; Rutkowski, Anne (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). LAMA2-Related Muscular Dystrophy. Seattle (WA): University of Washington, Seattle. PMID 22675738.update 2012
  7. ^ "OMIM Entry - # 612937 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O". www.omim.org. Retrieved 2016-04-26.
  8. ^ "OMIM Entry - # 615042 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U". www.omim.org. Retrieved 2016-04-26.
  9. ^ "OMIM Entry - # 608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E". www.omim.org. Retrieved 2016-04-26.
  10. ^ "OMIM Entry - # 602771 - RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1". www.omim.org. Retrieved 2016-04-26.
  11. ^ "OMIM Entry - # 613205 - MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED". www.omim.org. Retrieved 2016-04-26.
  12. ^ "OMIM Entry - # 613204 - MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY". www.omim.org. Retrieved 2016-04-26.
  13. ^ Reference, Genetics Home. "Fukuyama congenital muscular dystrophy". Genetics Home Reference. Retrieved 2016-04-26.
  14. ^ "OMIM Entry - # 607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A". www.omim.org. Retrieved 2016-04-26.
  15. ^ "OMIM Entry - % 609456 - MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE". www.omim.org. Retrieved 2016-04-26.
  16. ^ "OMIM Entry - # 254090 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1". omim.org. Retrieved 2016-04-26.
  17. ^ "Hypotonia: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-04-28.
  18. ^ Reed, Umbertina Conti. "Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects". Arquivos de Neuro-Psiquiatria. 67 (1): 144–168. doi:10.1590/S0004-282X2009000100038. ISSN 0004-282X.
  19. ^ Reed, Umbertina (2009). "Congenital muscular dystrophy part 2" (PDF). Neuropsiquitria. Retrieved 2016. {{cite journal}}: Check date values in: |access-date= (help)
  20. ^ "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28.
  21. ^ a b "Congenital muscular dystrophy". Guidelines American Academy of Neurology. 2015. Retrieved 2016. {{cite journal}}: Check date values in: |access-date= (help)

Further reading

Retrieved from "https://en.wikipedia.org/w/index.php?title=Congenital_muscular_dystrophy&oldid=721002577"