Ullrich congenital muscular dystrophy
| Ullrich congenital muscular dystrophy | |
|---|---|
| Other names | Scleroatonic muscular dystrophy[1] |
 | |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Symptoms | Muscle weakness[2] |
| Types | UCMD1, UCMD2 |
| Causes | Mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 gene[3] |
| Diagnostic method | Physical exam, Medical history[3] |
| Medication | Physical 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[edit]
The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:[2][8][9]
- Muscle weakness
- Difficulty walking (ambulation is typically lost by age 5–15 years)
- Contractures (predominantly in proximal muscles, e.g. neck)
- Joint looseness (predominantly in distal joints)
- Fatty infiltration of muscle
Genetics[edit]
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[edit]
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:[medical citation needed]
- MRI
- Biopsy muscle
- Genetic testing
Differential diagnosis[edit]
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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
- ^ a b "Orphanet: Congenital muscular dystrophy, Ullrich type". www.orpha.net. Retrieved 2016-05-11.
- ^ a b Reference, Genetics Home. "collagen VI-related myopathy". Genetics Home Reference. Retrieved 2016-05-11.
- ^ a b c d e "Ullrich congenital muscular dystrophy | Disease | Treatment | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-05-11.
- ^ a b c d "Phenotypic Series - PS254090 – Ullrich congenital muscular dystrophy". Online Mendelian Inheritance in Man.
- ^ "Ullrich congenital muscular dystrophy - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-11.
- ^ a b c Foley, A. Reghan; Mohassel, Payam; Donkervoort, Sandra; Bolduc, Véronique; Bönnemann, Carsten G. (January 31, 1993). "Collagen VI-Related Dystrophies". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Mirzaa, Ghayda M.; Amemiya, Anne (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301676.
- ^ 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.
- ^ a b Bönnemann, Carsten G. (2011). "Chapter 5 - The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy". Handbook of Clinical Neurology. Vol. 101. Elsevier. pp. 81–96. doi:10.1016/B978-0-08-045031-5.00005-0. ISBN 9780080450315. PMC 5207779. PMID 21496625.
- ^ 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. PMC 5210181. PMID 21691338.
- ^ "COL6A1 collagen type VI alpha 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-11.
- ^ Bushby KM, Collins J, Hicks D (2014) Collagen type VI myopathies. Adv Exp Med Biol 802:185-199
- ^ 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". Arquivos de Neuro-Psiquiatria. 63 (3b): 785–790. doi:10.1590/S0004-282X2005000500013. ISSN 0004-282X. PMID 16258657.
- ^ Emad R Noor (July 3, 2019). "Congenital Muscular Dystrophy Treatment & Management: Medical Care, Surgical Care, Consultations". Medscape. Retrieved 2019-09-04.
- ^ "Scoliosis: MedlinePlus". www.nlm.nih.gov. Retrieved 2016-05-12.
- ^ "OMIM Entry - # 254090 - Ullrich Congenital Muscular Dystrophy; UCMD1". omim.org. Retrieved 2016-05-12.
- ^ 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. PMC 3632061. PMID 23580791.
Further reading[edit]
- Kelly, Evelyn B. (2013-01-07). Encyclopedia of Human Genetics and Disease [2 volumes]. ABC-CLIO. ISBN 9780313387142.
- Carakushansky, Gerson; Ribeiro, Marcia Gonçalves; Kahn, Evelyn (2011). "Moderately progressive Ullrich congenital muscular dystrophy". Jornal de Pediatria. 88 (1): 93–96. doi:10.2223/JPED.2112. ISSN 0021-7557. PMID 22016142.
- "National Guideline Clearinghouse | Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine". www.guideline.gov. Archived from the original on 2016-04-08. Retrieved 2016-05-12.
- Hicks, D.; Lampe, A. K.; Laval, S. H.; Allamand, V.; Jimenez-Mallebrera, C.; Walter, M. C.; Muntoni, F.; Quijano-Roy, S.; Richard, P.; Straub, V.; Lochmuller, H.; Bushby, K. M. D. (16 November 2008). "Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue" (PDF). Brain. 132 (1): 147–155. doi:10.1093/brain/awn289. PMID 19015158. Retrieved 12 May 2016.
External links[edit]
