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Miyoshi myopathy

MedGen UID:
1790866
•Concept ID:
C5553104
•
Disease or Syndrome
Synonyms: Miyoshi distal myopathy; Miyoshi muscular dystrophy; Muscular dystrophy, distal, late onset, autosomal recessive
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009685
OMIM®: 254130
OMIM® Phenotypic series: PS254130
Orphanet: ORPHA45448

Definition

A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMiyoshi myopathy

Professional guidelines

PubMed

Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A
Neurogenetics 2023 Jan;24(1):43-53. Epub 2022 Dec 29 doi: 10.1007/s10048-022-00707-3. PMID: 36580222
Left ventricular function in adults with muscular dystrophies: genotype-phenotype correlations.
Martins E, Silva-Cardoso J, Silveira F, Nadais G, Gonçalves FR
Rev Port Cardiol 2005 Jan;24(1):23-35. PMID: 15773664

Recent clinical studies

Etiology

Dysferlinopathies: Clinical and genetic variability.
Ivanova A, Smirnikhina S, Lavrov A
Clin Genet 2022 Dec;102(6):465-473. Epub 2022 Sep 6 doi: 10.1111/cge.14216. PMID: 36029111
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K; Jain COS Consortium, Bourke J, Straub V
Muscle Nerve 2022 May;65(5):531-540. Epub 2022 Mar 5 doi: 10.1002/mus.27524. PMID: 35179231Free PMC Article
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium
Neuromuscul Disord 2021 Apr;31(4):265-280. Epub 2021 Jan 21 doi: 10.1016/j.nmd.2021.01.009. PMID: 33610434
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M, Angelini C
Muscle Nerve 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. PMID: 27501525
Dysferlin and the plasma membrane repair in muscular dystrophy.
Bansal D, Campbell KP
Trends Cell Biol 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001. PMID: 15066638

Diagnosis

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium
Neuromuscul Disord 2021 Apr;31(4):265-280. Epub 2021 Jan 21 doi: 10.1016/j.nmd.2021.01.009. PMID: 33610434
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.
Patel NJ, Van Dyke KW, Espinoza LR
Am J Med Sci 2017 May;353(5):484-491. Epub 2016 May 30 doi: 10.1016/j.amjms.2016.05.024. PMID: 28502335
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M, Angelini C
Muscle Nerve 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. PMID: 27501525
Dysferlinopathies.
Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N
Neurol India 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. PMID: 18974555
Distal myopathies.
Udd B, Griggs R
Curr Opin Neurol 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. PMID: 11562566

Therapy

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561Free PMC Article
Designing Effective Antisense Oligonucleotides for Exon Skipping.
Shimo T, Maruyama R, Yokota T
Methods Mol Biol 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10. PMID: 29067661
Lipid accumulation in dysferlin-deficient muscles.
Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T
Am J Pathol 2014 Jun;184(6):1668-76. Epub 2014 Mar 29 doi: 10.1016/j.ajpath.2014.02.005. PMID: 24685690
New developments in exon skipping and splice modulation therapies for neuromuscular diseases.
Touznik A, Lee JJ, Yokota T
Expert Opin Biol Ther 2014 Jun;14(6):809-19. Epub 2014 Mar 12 doi: 10.1517/14712598.2014.896335. PMID: 24620745
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H
Orphanet J Rare Dis 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26. PMID: 23406536Free PMC Article

Prognosis

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium
Neuromuscul Disord 2023 Feb;33(2):199-207. Epub 2023 Jan 6 doi: 10.1016/j.nmd.2023.01.001. PMID: 36689846
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K; Jain COS Consortium, Bourke J, Straub V
Muscle Nerve 2022 May;65(5):531-540. Epub 2022 Mar 5 doi: 10.1002/mus.27524. PMID: 35179231Free PMC Article
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
Choi ER, Park SJ, Choe YH, Ryu DR, Chang SA, Choi JO, Lee SC, Park SW, Kim BJ, Kim DK, Oh JK
J Cardiovasc Magn Reson 2010 May 24;12(1):31. doi: 10.1186/1532-429X-12-31. PMID: 20497525Free PMC Article
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N
Hum Mutat 2005 Aug;26(2):165. doi: 10.1002/humu.9355. PMID: 16010686
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.
Saito A, Higuchi I, Nakagawa M, Saito M, Hirata K, Suehara M, Yoshida Y, Takahashi T, Aoki M, Osame M
Acta Neuropathol 2002 Dec;104(6):615-20. Epub 2002 Jul 19 doi: 10.1007/s00401-002-0593-x. PMID: 12410383

Clinical prediction guides

Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium
Neuromuscul Disord 2023 Feb;33(2):199-207. Epub 2023 Jan 6 doi: 10.1016/j.nmd.2023.01.001. PMID: 36689846
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K; Jain COS Consortium, Bourke J, Straub V
Muscle Nerve 2022 May;65(5):531-540. Epub 2022 Mar 5 doi: 10.1002/mus.27524. PMID: 35179231Free PMC Article
Lipid accumulation in dysferlin-deficient muscles.
Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T
Am J Pathol 2014 Jun;184(6):1668-76. Epub 2014 Mar 29 doi: 10.1016/j.ajpath.2014.02.005. PMID: 24685690
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M
Mol Med 2011 Sep-Oct;17(9-10):875-82. Epub 2011 May 6 doi: 10.2119/molmed.2011.00084. PMID: 21556485Free PMC Article
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K
Am J Hum Genet 1996 Oct;59(4):872-8. PMID: 8808603Free PMC Article

Recent systematic reviews

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561Free PMC Article

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