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Muscular dystrophy and arthrogryposis

MedGen UID:
808160
•Concept ID:
CN221559
•
Disease or Syndrome

Professional guidelines

PubMed

Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B
Genet Med 2020 Dec;22(12):2029-2040. Epub 2020 Aug 11 doi: 10.1038/s41436-020-0914-2. PMID: 32778822
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network
Orphanet J Rare Dis 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. PMID: 30257713Free PMC Article
Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita.
Canavese F, Sussman MD
Hip Int 2009 Jan-Mar;19 Suppl 6:S46-52. doi: 10.1177/112070000901906s08. PMID: 19306247

Recent clinical studies

Etiology

Effects of Powerchair Football: Contextual Factors That Impact Participation.
Vandenbergue A, Barfield JP, Ahmaidi S, Williams S, Weissland T
Adapt Phys Activ Q 2024 Jan 1;41(1):67-87. Epub 2023 Jun 20 doi: 10.1123/apaq.2022-0124. PMID: 37339770
Birth outcomes among women with congenital neuromuscular disabilities.
Huezo García M, Parker SE, Petersen JM, Rubenstein E, Werler MM
Disabil Health J 2022 Apr;15(2):101259. Epub 2021 Dec 1 doi: 10.1016/j.dhjo.2021.101259. PMID: 34980574Free PMC Article
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S
Parkinsonism Relat Disord 2019 May;62:210-214. Epub 2018 Dec 11 doi: 10.1016/j.parkreldis.2018.12.007. PMID: 30573412
Neuromuscular disorders associated with apical hypertrophic cardiomyopathy.
Finsterer J, Stöllberger C
Acta Cardiol 2009 Feb;64(1):85-9. doi: 10.2143/AC.64.1.2034367. PMID: 19317303
Congenital muscular dystrophies.
Fenichel GM
Neurol Clin 1988 Aug;6(3):519-28. PMID: 3065598

Diagnosis

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ
Neurologia (Engl Ed) 2022 May;37(4):257-262. Epub 2021 Apr 10 doi: 10.1016/j.nrleng.2019.01.014. PMID: 35595401
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B
Acta Myol 2020 Dec;39(4):245-265. Epub 2020 Dec 1 doi: 10.36185/2532-1900-028. PMID: 33458580Free PMC Article
Arthrogryposis.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B7-B9. doi: 10.1016/j.ajog.2019.09.021. PMID: 31787162
Congenital myopathies.
Sewry CA, Jimenez-Mallebrera C, Muntoni F
Curr Opin Neurol 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7. PMID: 18769251
Arthrogryposis multiplex congenita.
Gordon N
Brain Dev 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. PMID: 9840670

Therapy

Teratogens associated with congenital contractures in humans and in animals.
Hall JG, Reed SD
Teratology 1982 Apr;25(2):173-91. doi: 10.1002/tera.1420250207. PMID: 7101197

Prognosis

A woman in her fifties with chronic muscle weakness.
Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K
Tidsskr Nor Laegeforen 2022 Jan 11;142(1) Epub 2022 Jan 7 doi: 10.4045/tidsskr.21.0038. PMID: 35026081
Arthrogryposis.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B7-B9. doi: 10.1016/j.ajog.2019.09.021. PMID: 31787162
SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S
Parkinsonism Relat Disord 2019 May;62:210-214. Epub 2018 Dec 11 doi: 10.1016/j.parkreldis.2018.12.007. PMID: 30573412
Neuromuscular disorders associated with apical hypertrophic cardiomyopathy.
Finsterer J, Stöllberger C
Acta Cardiol 2009 Feb;64(1):85-9. doi: 10.2143/AC.64.1.2034367. PMID: 19317303
Arthrogryposis multiplex congenita.
Gordon N
Brain Dev 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. PMID: 9840670

Clinical prediction guides

Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.
Pridmore M, Castoro R, McCollum MS, Kang H, Li J, Dortch R
Ann Clin Transl Neurol 2020 Jan;7(1):15-25. Epub 2019 Dec 24 doi: 10.1002/acn3.50953. PMID: 31872979Free PMC Article
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S
Am J Hum Genet 2016 Sep 1;99(3):753-761. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.033. PMID: 27569547Free PMC Article
Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles.
Ackermann MA, Ward CW, Gurnett C, Kontrogianni-Konstantopoulos A
Sci Rep 2015 Aug 19;5:13235. doi: 10.1038/srep13235. PMID: 26287277Free PMC Article
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Am J Med Genet A 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. PMID: 18478590
The role of bilateral talectomy in the management of bilateral rigid clubfeet.
Letts M, Davidson D
Am J Orthop (Belle Mead NJ) 1999 Feb;28(2):106-10. PMID: 10067713

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