Why do patients with calpainopathy lose gait?
DOI:
https://doi.org/10.62827/fb.v25i6.1039Keywords:
Muscular dystrophies; functional status; muscle strength; physiotherapy; neuromuscular manifestation.Abstract
Introduction: Calpainopathy is a neuromuscular disease characterized by muscle weakness and progressive muscle atrophy. Few studies detail the characteristics of muscle strength, range of motion, and motor function in ambulator and non-ambulator patients with calpainopathy. Objective: To identify functional aspects that distinguish ambulator and non-ambulator patients with calpainopathy, considering muscle strength, range of motion and motor function. Methods: A total of 50 patients (16 - 56 years old, 26 non-ambulators and 24 ambulators) participated in the study. Muscle strength, range of motion, motor function, and functional independence were measured. Results: There was a significant difference in the muscle strength of the ambulator and non-ambulator groups in the hip, knee, ankle and shoulder segments bilaterally, as expected. There was no difference between the groups in terms of range of motion. The mean total scores of the Functional Independence Measure for the ambulator group were 106.0±11.3, while the non-ambulator group scored 80.6±5.8. Conclusion: It was possible to describe the functional condition of the sample of Brazilian patients with calpainopathy and to recognize relevant functional biomarkers, such as muscle strength and motor function, for clinical and research practice.
References
Zatz M, Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders. 2003 Apr; 13(7-8): 532–44. https://doi. 10.1016/s0960-8966(03)00100-7
Albuquerque MAV. Distrofia muscular de cinturas em crianças: caracterização clínica, histológica e molecular [Tese]. São Paulo: Faculdade de Medicina, Universidade de São Paulo; 2013. [Internet]; [cited 2017 feb 17]. Available from https://www.teses.usp.br/teses/disponiveis/5/5138/tde-03012014-154533/publico/MarcoAntonioVelosodeAlbuquerque.pdf
Bonne G, Rivier F, Hamroun D. The 2019 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders 2018; 28(12):1031-1063. 10.1016/j.nmd.2018.09.006
Straub, V.; Murphy, A.; Udd, B. 229th ENMC International Workshop: Limb Girdle Muscular Dystrophies - Nomenclature and Reformed Classification Naarden, The Netherlands, 17–19 March 2017. Neuromuscul Disord. 2018 Aug; 28(8):702-710. https://doi., https://doi.org/10.1016/j.nmd.2018.05.007
Angelini C. LGMD. Identification, description and classification. Acta Myol. 2020; 39:207-17. https://doi. 10.36185/2532-1900-024
Iyadurai SJ, Kissel JT. The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. Continuum (Minneap Minn). 2016 Dec;22(6):1954-1977. https://doi.10.1212/CON.0000000000000406
Mahmood OA, Jiang XM. Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). Mol Med Rep. 2014 May;9(5):1515-32. https://doi.10.3892/mmr.2014.2048
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, et al. Juvenile limb-girdle muscular dystrophy Clinical, histopathological and genetic data from a small community living in the Reunion Island.Brain. 1996 Feb;119(1):295-308. https://doi.10.1093/brain/119.1.295
Landires I, Núñez-Samudio V, Fernandez J, Sarria C, Villareal V, Córdoba F, et al. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures. Genes (Basel). 2020 Feb; 11(2): 129. https://doi. 10.3390/genes11020129
Ojima K, Kono Y, Ottenheijim C, Chata S, Suzuki H, Granzier H, et al. Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles. J Mol Biol. 2011 Apr; 407(3):439–49. https://doi.10.1002/pmic.201400386
Elgarresta JL, Mosqueira LM, Gastesi NN, Sáenz A, Munain AL, Illarramendi AV. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations. Int J Mol Sci. 2019 Sep; 20(18): 4548. https://doi.10.3390/ijms20184548
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, et al. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain. 1998 Sep;121(9):1735-47. https://doi.10.1093/brain/121.9.1735
Carvalho EV. Avaliação da responsividade da escala de avaliação funcional para distrofia muscular de Duchenne-domínio marcha [Tese]. São Paulo: Faculdade de Medicina, Universidade de São Paulo; 2017. [Internet]. [cited 2017 feb 17]. Available from https://repositorio.usp.br/item/002870125.
Beckmann JS, Bushby KMD. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy. Curr Opin Neurol 1996; 9: 389–93. https://doi.10.1097/00019052-199610000-00013
Hukuda ME, Elaboração de confiabilidade de escala de avaliação do sentar e levantar da cadeira para portadores de distrofia muscular de Duchenne (DMD) [Tese]. São Paulo: Faculdade de Medicina, Universidade de São Paulo; 2009. [Internet]. [cited 2017 feb 17]. Available from https://www.teses.usp.br/teses/disponiveis/5/5163/tde-09122009-162729/pt-br.php
Nunes MF, Hukuda ME, Favero FM, Oliveira AB, Voos MC, Caromano FA. The relationship between muscle strength and motor function in Duchenne muscular dystrophy. Arq Neuro-Psiquiatr. 2016 Jul; 74(7), 530-535. https://doi.10.1590/0004-282X20160085
Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014 Feb;36(22):1918-23. https://doi.10.3109/09638288.2014.883444
Kendall FP, McCreary EK, Provance PG. Músculos: provas e funções. 5 ed. São Paulo: Manole; 2007. [Internet]. [cited 2017 feb 17]. Available from https://www.manole.com.br/musculos-provas-funcoes-5-edicao/p
Diniz GPC, Lasmar LM, Giannetti JG. Motor assessment in patients with Duchenne muscular dystrophy. Arq Neuro-Psiquiatr. 2012 Jun; 70(6):416-421. doi:10.1590/s0004-282x2012000600007
Reese N, Bandy W, (Joint Range of Motion and Muscle Length Testing 3rd Edition). Editora: Saunders, 2016. https://doi.10.1590/s0004-282x2012000600007
Vignos PJ Jr, Archibald KC. Maintenance of ambulation in childhood muscular dystrophy. J. Chronic Dis. 1960; 12:273-89. https://doi.10.1016/0021-9681(60)90105-3
Steffensen B, Hyde S, Lyager S, Mattson E. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int. 2001 Mar; 6:119-34. https://doi. 10.1002/pri.221
Swank C, Almutairi S, Medley A. Proposing Development and Utility of a Mobility Composite Measure in Patients with a Neurologic Disorder. Rehabil Res Pract. 2017 Oct; 2017:1-7. https://doi. 10.1155/2017/8619147
Viana FP, Lorenzo AC, Oliveira EF, Resende SM. Medida de independência funcional nas atividades de vida diária em idosos com seqüelas de acidente vascular encefálico no Complexo Gerontológico Sagrada Família de Goiânia. Rev Bras Geriatr Gerontol. 2008 Jan; 11(1):17-28. https://doi.org/10.1590/1809-9823.2008.11013
Ellis, PD. (2010). The Essential Guide to Effect Sizes: Statistical Power, Meta-Analysis, and the Interpretation of Research Results. 1 ed. Cambridge: Cambridge University Press; 2010. doi: https://doi.org/10.1017/CBO9780511761676
Espírito-Santo HA, Daniel F. Calcular e apresentar tamanhos do efeito em trabalhos científicos (1): As limitações do p < 0,05 na análise de diferenças de médias de dois grupos. Revista Portuguesa de Investigação Comportamental e Social. 2015;1(1):3-16. https://doi.org/10.1017/CBO9780511761676
McGraw KO, Wong SP. A common language effect size statistic. Psychological Bulletin. 1992; 111(2): 361-365. https://doi.org/10.1037/0033-2909.111.2.361
Magri F, Del Bo R, D’Angelo MG, Sciacco M, Gandossini S, Govoni A, et al. Frequency and characterization of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscul Disord. 2012 Nov; 22(11):934-943. https://doi. 10.1016/j.nmd.2012.05.001
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008 Jan; 18(1):34-44. https://doi. 10.1016/j.nmd.2007.08.009
Mahmood OA, Jiang XM, Zhang Q. Limb-girdle muscular dystrophy subtypes: first-reported cohort from northeastern China. Neural Regen Res. 2013 Jul; 8 (20):1907-1918. https://doi. 10.3969/j.issn.1673-5374.2013.20.010
Dincer P, Akcoren Z, Demir E, Richard I, Sancak O, Kale G, et al. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. Journal of Medical Genetics. 2000; 37(5):361-367. https://doi. 10.1136/jmg.37.5.361
Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, et al. Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. Muscle Nerve. 2017 Apr;55(4):465-469. https://doi. 10.1002/mus.25369
Murphy AP, Straub V. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies. J Neuromuscul Dis. 2015 Jul 22; 2(2):S7-S19. https://doi. 10.3233/JND-150105
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, et al. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain3 gene. Brain.2005 Apr; 128(Pt 4):732-42. https://doi.org/10.1093/brain/awh408
Izco FM, Iriarte MM, Aldea JJP, Massó JFM, de Munain AL. Análisis de la marcha y del movimiento de las extremidades superiores en distrofias musculares. Neurología: 2005; [Internet]. 20(7):341-348. [cited 2017 feb 17]. Available from https://repositorio.unip.br/wp-content/uploads/2020/12/V30_n2_2012_p176-180.pdf
Zatz M, Starling A. Calpains and disease. N Engl J Med. 2005 Jun; 352(2): 2413-423. https://doi. 10.1056/NEJMra043361
Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, et al. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet J Rare Dis. 2020 Jun 23;15(1):160. https://doi. 10.1186/s13023-020-01445-1
Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS. Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy. J Korean Med Sci. 2007 Jun; 22(3): 463–469. https://doi. 10.3346/jkms.2007.22.3.463
Artilheiro MC, Sá CSC, Fávero FM, Caromano FA, Voos MC. Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks. Braz J Med Biol Res. 2017 Jul;50(8): e6031. https://doi. 10.1590/1414-431X20176031
Oosterwijk AM, Nieuwenhuis MK, van der Schans CP, Mouton LJ. Shoulder and elbow range of motion for the performance of activities of daily living: A systematic review. Physiother Theory Pract. 2018 Jan 29:1-24. https://doi. 10.1080/09593985.2017.1422206
Bergsma A, Janssen MMHP, Geurts ACH, Cup EHC, de Groot IJM. Different profiles of upper limb function in four types of neuromuscular disorders. Neuromuscul Disord. 2017; 27(12):1115-1122. https://doi. 10.1016/j.nmd.2017.09.003
Lue YJ, Lin RF, Chen SS, Lu YM. Measurement of the functional status of patients with different types of muscular dystrophy. Kaohsiung J Med Sci. 2009 Jun;25(6):325-33. https://doi. 10.1016/S1607-551X(09)70523-6
Fagoaga J, Girabent-Farrés M, Bagur-Calafat C, Steffensen BF. Evolución de la capacidad functional valorada con la escala Egen Klassifikation en personas afectas de atrofia muscular espinal o distrofia muscular de Duchenne de la población española: estudio longitudinal de tres años. Rev Neurol. 2015; 61(8):344-348. https://doi. 10.33588/rn.6108.2015319
Martini J, Voos MC, Hukuda ME, Resende MBD, Caromano FA. Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy. Arq Neuro-Psiquiatr. 2014 Jan;72(1): 5-11. https://doi. 10.1590/0004-282X20130196
Finsterer J. Calpainopathy Can manifest itself in not only skeletal muscle but also the brain and myocardium. Intern Med. 2024 May 30. doi: 10.2169/internal medicine.3919-24. Epub ahead of print. PMID: 38811215. https://doi. 10.2169/internalmedicine.3919-24
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