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Late-onset muscular dystrophy

MedGen UID:
870495
•Concept ID:
C4024942
•
Disease or Syndrome
Synonym: Muscular Dystrophy - Late Onset
 
HPO: HP:0007081

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Late-onset muscular dystrophy

Conditions with this feature

Muscular dystrophy, Mabry type
MedGen UID:
326551
•Concept ID:
C1839670
•
Disease or Syndrome
See: Condition Record
Muscular dystrophy, Mabry type

Professional guidelines

PubMed

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M
BMC Neurol 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. PMID: 34172001Free PMC Article
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article
Prenatal diagnosis.
Kabra M
Indian J Pediatr 2003 Jan;70(1):81-5. doi: 10.1007/BF02722749. PMID: 12619957

Recent clinical studies

Etiology

Molecular mechanisms underlying polyalanine diseases.
Messaed C, Rouleau GA
Neurobiol Dis 2009 Jun;34(3):397-405. Epub 2009 Mar 6 doi: 10.1016/j.nbd.2009.02.013. PMID: 19269323
Mutation analysis and molecular genetics of epidermolysis bullosa.
Pulkkinen L, Uitto J
Matrix Biol 1999 Feb;18(1):29-42. doi: 10.1016/s0945-053x(98)00005-5. PMID: 10367729
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.
Bushby K, Anderson LV, Pollitt C, Naom I, Muntoni F, Bindoff L
Brain 1998 Apr;121 ( Pt 4):581-8. doi: 10.1093/brain/121.4.581. PMID: 9577386
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Biological roles of blood group antigens.
Marsh WL
Yale J Biol Med 1990 Sep-Oct;63(5):455-60. PMID: 2293504Free PMC Article

Diagnosis

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF
Muscle Nerve 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076. PMID: 21674528
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J
J Neurol Sci 2010 Apr 15;291(1-2):79-85. Epub 2010 Feb 8 doi: 10.1016/j.jns.2009.12.008. PMID: 20116073
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E
Arch Neurol 2005 Dec;62(12):1894-9. doi: 10.1001/archneur.62.12.1894. PMID: 16344347
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.
Dang M, Pulkkinen L, Smith FJ, McLean WH, Uitto J
Lab Invest 1998 Feb;78(2):195-204. PMID: 9484717
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791

Therapy

The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy.
Mouly V, Aamiri A, Bigot A, Cooper RN, Di Donna S, Furling D, Gidaro T, Jacquemin V, Mamchaoui K, Negroni E, Périé S, Renault V, Silva-Barbosa SD, Butler-Browne GS
Acta Physiol Scand 2005 May;184(1):3-15. doi: 10.1111/j.1365-201X.2005.01417.x. PMID: 15847639

Prognosis

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.
Fernández-Gómez A, Velasco BR, Izquierdo JM
Cells 2022 Mar 4;11(5) doi: 10.3390/cells11050884. PMID: 35269506Free PMC Article
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J
J Neurol Sci 2010 Apr 15;291(1-2):79-85. Epub 2010 Feb 8 doi: 10.1016/j.jns.2009.12.008. PMID: 20116073
Living with oculopharyngeal muscular dystrophy: a phenomenological study.
Krause-Bachand J, Koopman W
Can J Neurosci Nurs 2008;30(1):35-9. PMID: 18432080
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J
J Invest Dermatol 2000 Feb;114(2):381-7. doi: 10.1046/j.1523-1747.2000.00880.x. PMID: 10652002
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
Kunz M, Rouan F, Pulkkinen L, Hamm H, Jeschke R, Bruckner-Tuderman L, Bröcker EB, Wiche G, Uitto J, Zillikens D
J Invest Dermatol 2000 Feb;114(2):376-80. doi: 10.1046/j.1523-1747.2000.00856.x. PMID: 10652001

Clinical prediction guides

The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774
Clinical and pathological heterogeneity in late-onset partial merosin deficiency.
Rajakulendran S, Parton M, Holton JL, Hanna MG
Muscle Nerve 2011 Oct;44(4):590-3. doi: 10.1002/mus.22196. PMID: 21922472
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E
Arch Neurol 2005 Dec;62(12):1894-9. doi: 10.1001/archneur.62.12.1894. PMID: 16344347
The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy.
Mouly V, Aamiri A, Bigot A, Cooper RN, Di Donna S, Furling D, Gidaro T, Jacquemin V, Mamchaoui K, Negroni E, Périé S, Renault V, Silva-Barbosa SD, Butler-Browne GS
Acta Physiol Scand 2005 May;184(1):3-15. doi: 10.1111/j.1365-201X.2005.01417.x. PMID: 15847639
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
Rouan F, Pulkkinen L, Meneguzzi G, Laforgia S, Hyde P, Kim DU, Richard G, Uitto J
J Invest Dermatol 2000 Feb;114(2):381-7. doi: 10.1046/j.1523-1747.2000.00880.x. PMID: 10652002

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