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Ullrich congenital muscular dystrophy

MedGen UID:
1642667
•Concept ID:
C4551860
•
Disease or Syndrome
Synonym: Ullrich muscular dystrophy
SNOMED CT: Congenita hypotonic - sclerotic muscular dystrophy (240062007); Ullrich congenital muscular dystrophy (240062007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: COL12A1, COL6A3, COL6A2, COL6A1
 
Monarch Initiative: MONDO:0000355
OMIM® Phenotypic series: PS254090
Orphanet: ORPHA75840

Definition

Ullrich congenital muscular dystrophy-1 (UCMD1) is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). Genetic Heterogeneity of Ullrich Congenital Muscular Dystrophy See also UCMD1B (620727), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; UCMD1C (620728), caused by mutation in the COL6A3 gene (120250) on chromosome 2q37; and UCMD2 (616470), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14. [from OMIM]

Professional guidelines

PubMed

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.
Kwong AK, Zhang Y, Ho RS, Gao Y, Ling X, Tsang MH, Luk HM, Chung BH, Bönnemann CG, Javed A, Chan SH
Neuromuscul Disord 2023 May;33(5):371-381. Epub 2023 Mar 12 doi: 10.1016/j.nmd.2023.03.003. PMID: 37023487
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F
Prenat Diagn 2004 Jun;24(6):440-4. doi: 10.1002/pd.902. PMID: 15229843

Recent clinical studies

Etiology

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.
Kwong AK, Zhang Y, Ho RS, Gao Y, Ling X, Tsang MH, Luk HM, Chung BH, Bönnemann CG, Javed A, Chan SH
Neuromuscul Disord 2023 May;33(5):371-381. Epub 2023 Mar 12 doi: 10.1016/j.nmd.2023.03.003. PMID: 37023487
Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.
Chakrabarty B, Sharma MC, Gulati S, Sarkar C
J Child Neurol 2017 Dec;32(14):1099-1103. doi: 10.1177/0883073817738466. PMID: 29129153
Congenital myopathies and muscular dystrophies.
Gilbreath HR, Castro D, Iannaccone ST
Neurol Clin 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. PMID: 25037085
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853

Diagnosis

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.
Chakrabarty B, Sharma MC, Gulati S, Sarkar C
J Child Neurol 2017 Dec;32(14):1099-1103. doi: 10.1177/0883073817738466. PMID: 29129153
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Yonekawa T, Nishino I
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):280-7. Epub 2014 Jun 17 doi: 10.1136/jnnp-2013-307052. PMID: 24938411
Congenital myopathies and muscular dystrophies.
Gilbreath HR, Castro D, Iannaccone ST
Neurol Clin 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. PMID: 25037085
Collagen type VI myopathies.
Bushby KM, Collins J, Hicks D
Adv Exp Med Biol 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. PMID: 24443028
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Therapy

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A
Neurology 2021 Mar 9;96(10):e1413-e1424. Epub 2021 Jan 13 doi: 10.1212/WNL.0000000000011499. PMID: 33441455Free PMC Article
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.
Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P
Oxid Med Cell Longev 2011;2011:139194. Epub 2011 Oct 17 doi: 10.1155/2011/139194. PMID: 22028947Free PMC Article
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM
Brain 2009 Jan;132(Pt 1):147-55. Epub 2008 Nov 16 doi: 10.1093/brain/awn289. PMID: 19015158
Therapy of collagen VI-related myopathies (Bethlem and Ullrich).
Merlini L, Bernardi P
Neurotherapeutics 2008 Oct;5(4):613-8. doi: 10.1016/j.nurt.2008.08.004. PMID: 19019314Free PMC Article
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P
Proc Natl Acad Sci U S A 2007 Jan 16;104(3):991-6. Epub 2007 Jan 10 doi: 10.1073/pnas.0610270104. PMID: 17215366Free PMC Article

Prognosis

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C
Int J Mol Sci 2023 Aug 5;24(15) doi: 10.3390/ijms241512474. PMID: 37569848Free PMC Article
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
Picillo E, Torella A, Passamano L, Nigro V, Politano L
Acta Myol 2022 Jun;41(2):95-98. Epub 2022 Jun 30 doi: 10.36185/2532-1900-073. PMID: 35832501Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Moderately progressive Ullrich congenital muscular dystrophy.
Carakushansky G, Ribeiro MG, Kahn E
J Pediatr (Rio J) 2012 Jan-Feb;88(1):93-6. Epub 2011 Oct 20 doi: 10.2223/JPED.2112. PMID: 22016142
Natural history of Ullrich congenital muscular dystrophy.
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F
Neurology 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. PMID: 19564581

Clinical prediction guides

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C
Int J Mol Sci 2023 Aug 5;24(15) doi: 10.3390/ijms241512474. PMID: 37569848Free PMC Article
Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.
Chakrabarty B, Sharma MC, Gulati S, Sarkar C
J Child Neurol 2017 Dec;32(14):1099-1103. doi: 10.1177/0883073817738466. PMID: 29129153
Natural history of Ullrich congenital muscular dystrophy.
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F
Neurology 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. PMID: 19564581
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG
J Neurol 2009 Jan;256(1):13-27. Epub 2009 Feb 9 doi: 10.1007/s00415-009-0105-1. PMID: 19221853
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F
Neuromuscul Disord 2005 Apr;15(4):303-10. doi: 10.1016/j.nmd.2005.01.004. PMID: 15792870

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