Limb-girdle muscular dystrophy and physical therapy: update and case report
DOI:
https://doi.org/10.33233/fb.v24i6.5568Keywords:
myopathy, rehabilitation, limb girdle muscular dystrophyAbstract
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. PAS, 71 years old, male, retired, diabetic and hypertensive. He reports that the clinical picture started in mid-2010 with complaints related to atrophy of the shoulder girdle and thigh region. "When looking at myself in the mirror I started to notice that I was losing muscle in my shoulders". The beginning of the clinical picture dragged on, still with muscle shape close to normal to perform daily activities. He points out that the cervical region bothers him a lot, mainly due to the inclined position in which he is. In this clinical case, we present neurological and functional evaluations, as well as complementary exams that help in the detection of LGMD. New studies, including a larger number of patients with myopathy of the waist and limbs, are needed. We believe that the best form of rehabilitation for this group of myopathies is not to look for overuse damage and, undoubtedly, work in search of function, not primarily strength.
References
Taheri F, Taghizadeh E, Pour MJR, Rostami D, Renani PG, Rastgar-Moghadam A, Hayat SMG. Limb-girdle muscular dystrophy and therapy: insights into cell and gene-based approaches. Curr Gene Ther. 2020;19(6):386-394. doi: 10.2174/1566523220666200218113526
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ. Muscular Dystrophies. Clin Chest Med. 2018 Jun;39(2):377-89. doi: 10.1016/j.ccm.2018.01.004
Kunti C, Ryain A, Dogra P, Ghosh A, Parab S. Physical therapy-based early intervention in limb-girdle muscular dystrophy. Indian J Pediatr. 2023 Mar;90(3):308. doi: 10.1007/s12098-022-04444-1
Cup EH, Pieterse AJ, Ten Broek-Pastoor JM, Munneke M, van Engelen BG, Hendricks HT, van der Wilt GJ, Oostendorp RA. Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review. Arch Phys Med Rehabil. 2007 Nov;88(11):1452-64. doi: 10.1016/j.apmr.2007.07.024
Alexanderson H. Exercise effects in patients with adult idiopathic inflammatory myopathies. Curr Opin Rheumatol. 2009 Mar;21(2):158-63. doi: 10.1097/BOR.0b013e328324e700
Orsini M, Freitas MRG, Mello MP, Reis CH, et al. Myopathy of atypical form and late-onset (clinical and rehabilitation aspects): Case report. Rev Neurocienc. 2010;18(2):161-65. doi: 10.34024/rnc.2010.v18.8495
Ansved T. Muscle Training in muscular dystrophies. Acta Physiol Scand 2001;171:359-66. doi: 10.1046/j.1365-201x.2001.00839.x
Mette C, Orngreen BS, David B, Olsen MD. Ann Neurol. 2005;57:754-7.
Orsini M, Freitas MRG, Nascimento OJM. Precauções na realização de exercícios terapêuticos para pacientes com doenças neuromusculares. Fisioterapia Ser. 2007;2:272-5.
Johnson GS, Johnson VS. The application of the principles and procedures of PNF for the care of lumbar spinal instabilities. J Manual Manipul Ther. 2002;2:83-105. doi: 10.1179/106698102790819274
Klein DA, Stone WJ, Phillips W, Gangi J, Hartman S. PNF training and physical function in assisted living older adults. J Aging Phys Act. 2002;10:476-88. doi: 10.1123/japa.10.4.476
Wang RY. The effect of proprioceptive neuromuscular facilitation in case of patients with hemiplegia of long and short duration. Phys Ther. 1994;12:25-32. doi: 10.1093/ptj/74.12.1108
Stübgen JP, Ras GS, Schultz CM, Crowther G. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax. 1994;49(1):61-5. doi: 10.1136/thx.49.1.61
Gigliotti F, Pizzi A, Duranti R, Gorini M, Iandelli I, Scano G. Control of breathing in patients with limb girdle dystrophy: a controlled study. Thorax 1995;50(9):962-8. doi: 10.1136/thx.50.9.962
Lo Mauro A, Aliverti A. Physiology of respiratory disturbances in muscular dystrophies. Breathe (Sheff). 2016;12(4):318-27. doi: 10.1183/20734735.012716
Sakuma K, A Wataru, Yamaguchi A. The intriguing regulators of muscle mass in sarcopenia and muscular dystrophy. Front Aging Neurosci. 2014;29;6:230. doi: 10.3389/fnagi.2014.00230
Cruz-Jentoft AJ, Bahat G, Bauer J, Boirie Y, Bruyère O, Cederholm T. Sarcopenia: revised European consensus on definition and diagnosis. Age Ageing. 2019;48(1):16-31. doi: 10.1093/ageing/afy169
Diella E, LoMauro A, Delle Fave M, Cima R, Angelo MG. The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy. Acta Myol. 2022 Dec 31;41(4):207-11. doi: 10.36185/2532-1900-084
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Copyright (c) 2023 Marco Orsini, Marcela de Moares Mesquita, Marcos RG de Freitas, Clara de Araujo Leite , Lara Alexandre Brandão Tomassini, Victor Hugo Bastos, Maria Victórya Manzi de Sant Anna, Mauricio Sant’Anna Junior
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