Medicine:Ullrich congenital muscular dystrophy

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Ullrich congenital muscular dystrophy
Other namesScleroatonic muscular dystrophy[1]
Autosomal recessive - en.svg
Autosomal recessive pattern is the inheritance manner of this condition
SymptomsMuscle weakness[2]
TypesUCMD1, UCMD2
CausesMutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene[3]
Diagnostic methodPhysical exam, Medical history[3]
MedicationPhysical therapy, Surgery(scoliosis)[3]

Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2.[4]

UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.[4]

UCMD is commonly associated with contractures, joint laxity, muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD.[5][6] It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome.[7]

Signs and symptoms

The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:[2][8][9]

Genetics

In terms of the genetics of UCMD1, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is both autosomal recessive and autosomal dominant in nature.[1][4][8]

COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein.[10]

In terms of the genetics of UCMD2, there are mutations in the gene COL12A1, and is autosomal recessive.[4]

Diagnosis

In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal.[6] Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:

Differential diagnosis

This includes[11]

Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy can be assumed. In the differential diagnosis of UCDM, even in patients without finger contractures, Bethlem myopathy could be considered.[12]

Treatment

Scoliosis X-ray

Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce contractures. Respiratory support may be needed at some point by the affected individual.[3]

Though cardiac complications are not a concern in this type of CMD, in regards to respiratory issues ventilation via a tracheostomy is a possibility in some cases.[6][13]

Prognosis

The prognosis of this sub-type of MD indicates that the affected individual may eventually have feeding difficulties. Surgery, at some point, might be an option for scoliosis.[3]

Scoliosis, which is a sideways curve of the persons vertebrate, is determined by a variety of factors, including the degree (mild or severe), in which case if possible a brace might be used by the individual.[14]

Research

Cyclosporin-A

In terms of possible research for Ullrich congenital muscular dystrophy one source indicates that cyclosporine A might be of benefit to individuals with this CMD type.[15]

According to a review by Bernardi, et al., cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to rotenone.[16]

See also

References

  1. ↑ 1.0 1.1 "Orphanet: Congenital muscular dystrophy, Ullrich type". http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=75840. 
  2. ↑ 2.0 2.1 Reference, Genetics Home. "collagen VI-related myopathy". https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy#genes. 
  3. ↑ 3.0 3.1 3.2 3.3 3.4 "Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/gard/4769/ullrich-congenital-muscular-dystrophy/resources/8. 
  4. ↑ 4.0 4.1 4.2 4.3 "Phenotypic Series - PS254090 – Ullrich congenital muscular dystrophy". https://www.omim.org/phenotypicSeries/PS254090. 
  5. ↑ "Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/. 
  6. ↑ 6.0 6.1 6.2 Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related Dystrophies". GeneReviews®. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK1503/. 
  7. ↑ O. Ullrich: Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems. In: Zeitschrift für die gesamte Neurologie und Psychiatrie. 126, 1930, p. 171, doi:10.1007/BF02864097.
  8. ↑ 8.0 8.1 Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". Handbook of Clinical Neurology. 101. Elsevier. pp. 81–96. doi:10.1016/B978-0-08-045031-5.00005-0. ISBN 9780080450315. 
  9. ↑ Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology 7 (7): 379–390. doi:10.1038/nrneurol.2011.81. ISSN 1759-4758. PMID 21691338. 
  10. ↑ "COL6A1 collagen type VI alpha 1 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1291. 
  11. ↑ Bushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199
  12. ↑ Reed, Umbertina Conti; Ferreira, Lucio Gobbo; Liu, Enna Cristina; Resende, Maria Bernadete Dutra; Carvalho, Mary Souza; Marie, Suely Kazue; Scaff, Milberto (September 2005). "Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity" (in en). Arquivos de Neuro-Psiquiatria 63 (3b): 785–790. doi:10.1590/S0004-282X2005000500013. ISSN 0004-282X. PMID 16258657. 
  13. ↑ Emad R Noor (July 3, 2019). "Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations". http://emedicine.medscape.com/article/1180214-treatment. 
  14. ↑ "Scoliosis: MedlinePlus". https://www.nlm.nih.gov/medlineplus/scoliosis.html. 
  15. ↑ "OMIM Entry - # 254090 - Ullrich Congenital Muscular Dystrophy; UCMD1". https://omim.org/entry/254090. 
  16. ↑ Bernardi, Paolo; Bonaldo, Paolo (May 2013). "Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies". Cold Spring Harbor Perspectives in Biology 5 (5): a011387. doi:10.1101/cshperspect.a011387. ISSN 1943-0264. PMID 23580791. 

Further reading

External links

Classification
External resources

Template:Scleroprotein diseaseTemplate:Myopathy



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