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Hereditary skeletal muscle disorder

MedGen UID:
1001724
•Concept ID:
CN324038
•
Disease or Syndrome
Synonyms: genetic muscle disease; genetic muscle disorder; genetic muscular disease; genetic muscular disorder; hereditary muscle disorder; hereditary skeletal muscle disorder
 
Monarch Initiative: MONDO:0700223

Definition

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual. [from MONDO]

Professional guidelines

PubMed

AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J
J Control Release 2023 Mar;355:458-473. Epub 2023 Feb 13 doi: 10.1016/j.jconrel.2023.01.067. PMID: 36736907
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715
Proximal myopathy: diagnostic approach and initial management.
Suresh E, Wimalaratna S
Postgrad Med J 2013 Aug;89(1054):470-7. Epub 2013 Apr 17 doi: 10.1136/postgradmedj-2013-131752. PMID: 23596213

Recent clinical studies

Etiology

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC
Brain 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. PMID: 36445400Free PMC Article
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148

Diagnosis

Congenital myopathies: an update.
Claeys KG
Dev Med Child Neurol 2020 Mar;62(3):297-302. Epub 2019 Oct 2 doi: 10.1111/dmcn.14365. PMID: 31578728
Hereditary neuropathy with liability to pressure palsies.
Attarian S, Fatehi F, Rajabally YA, Pareyson D
J Neurol 2020 Aug;267(8):2198-2206. Epub 2019 Apr 15 doi: 10.1007/s00415-019-09319-8. PMID: 30989370
Approach to the Patient With HyperCKemia.
Venance SL
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1803-1814. doi: 10.1212/01.CON.0000511069.68640.39. PMID: 27922494
Myositis Ossificans.
Walczak BE, Johnson CN, Howe BM
J Am Acad Orthop Surg 2015 Oct;23(10):612-22. Epub 2015 Aug 28 doi: 10.5435/JAAOS-D-14-00269. PMID: 26320160
Proximal myopathy: diagnostic approach and initial management.
Suresh E, Wimalaratna S
Postgrad Med J 2013 Aug;89(1054):470-7. Epub 2013 Apr 17 doi: 10.1136/postgradmedj-2013-131752. PMID: 23596213

Therapy

Chemistry, structure and function of approved oligonucleotide therapeutics.
Egli M, Manoharan M
Nucleic Acids Res 2023 Apr 11;51(6):2529-2573. doi: 10.1093/nar/gkad067. PMID: 36881759Free PMC Article
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
Proximal myopathy: diagnostic approach and initial management.
Suresh E, Wimalaratna S
Postgrad Med J 2013 Aug;89(1054):470-7. Epub 2013 Apr 17 doi: 10.1136/postgradmedj-2013-131752. PMID: 23596213

Prognosis

Mechanisms of muscle atrophy and hypertrophy: implications in health and disease.
Sartori R, Romanello V, Sandri M
Nat Commun 2021 Jan 12;12(1):330. doi: 10.1038/s41467-020-20123-1. PMID: 33436614Free PMC Article
Epigenetics of neuromuscular disorders.
Coppedè F
Epigenomics 2020 Dec;12(23):2125-2139. Epub 2020 Nov 6 doi: 10.2217/epi-2020-0282. PMID: 33155830
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Approach to the Patient With HyperCKemia.
Venance SL
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1803-1814. doi: 10.1212/01.CON.0000511069.68640.39. PMID: 27922494
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Clinical prediction guides

AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J
J Control Release 2023 Mar;355:458-473. Epub 2023 Feb 13 doi: 10.1016/j.jconrel.2023.01.067. PMID: 36736907
Epigenetics of neuromuscular disorders.
Coppedè F
Epigenomics 2020 Dec;12(23):2125-2139. Epub 2020 Nov 6 doi: 10.2217/epi-2020-0282. PMID: 33155830
Approach to the Patient With HyperCKemia.
Venance SL
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1803-1814. doi: 10.1212/01.CON.0000511069.68640.39. PMID: 27922494
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ
Science 2015 Jan 9;347(6218):1254806. Epub 2014 Dec 18 doi: 10.1126/science.1254806. PMID: 25525159Free PMC Article

Recent systematic reviews

Reliability of Muscle Strength and Muscle Power Assessments Using Isokinetic Dynamometry in Neuromuscular Diseases: A Systematic Review.
van der Woude DR, Ruyten T, Bartels B
Phys Ther 2022 Oct 6;102(10) doi: 10.1093/ptj/pzac099. PMID: 35899532Free PMC Article
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
Creatine for treating muscle disorders.
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD004760. doi: 10.1002/14651858.CD004760.pub4. PMID: 23740606Free PMC Article
Creatine for treating muscle disorders.
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database Syst Rev 2011 Feb 16;(2):CD004760. doi: 10.1002/14651858.CD004760.pub3. PMID: 21328269
Creatine for treating muscle disorders.
Kley RA, Vorgerd M, Tarnopolsky MA
Cochrane Database Syst Rev 2007 Jan 24;(1):CD004760. doi: 10.1002/14651858.CD004760.pub2. PMID: 17253521

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