Preventing Progressivity in Becker Muscular Dystrophy Patient: A Rare Case Report
Main Article Content
Abstract
Introduction: Becker muscular dystrophy (BMD) is a genetic disease caused by mutation of the dystrophin gene due to defects in the Xp21.2 chromosome and inherited by X-linked recessive. BMD is a slowly progressive weakness from proximal muscle. BMD patients are rarer than duchenne muscular dystrophy (DMD).
Case Description: An 18-year-old male came with weakness in both legs, mainly at the base of the thigh. The symptoms have been felt for the last three years and progressively for the last two years. He felt a change in walking style and difficulty standing from a sitting position. He denied any family history. Examinations found increased creatine kinase (CK) and electromyography (EMG) showed myopathy in the right femoral nerve. Patient took vitamins daily, done exercise therapy and neuromuscular electrostimulation (NMES) once a week.
Conclusion: Diagnosing BMD is not only from history taking and physical examination but also necessary to consider CK levels and myopathy on EMG, even though genetic testing or muscle biopsy could not be done. Until now there is no guideline related to BMD therapy programs, further research is expected to discuss BMD therapy program in detail.
Case Description: An 18-year-old male came with weakness in both legs, mainly at the base of the thigh. The symptoms have been felt for the last three years and progressively for the last two years. He felt a change in walking style and difficulty standing from a sitting position. He denied any family history. Examinations found increased creatine kinase (CK) and electromyography (EMG) showed myopathy in the right femoral nerve. Patient took vitamins daily, done exercise therapy and neuromuscular electrostimulation (NMES) once a week.
Conclusion: Diagnosing BMD is not only from history taking and physical examination but also necessary to consider CK levels and myopathy on EMG, even though genetic testing or muscle biopsy could not be done. Until now there is no guideline related to BMD therapy programs, further research is expected to discuss BMD therapy program in detail.
Article Details
How to Cite
Prameswari, A. W. Y., & Tandiyo, D. K. (2024). Preventing Progressivity in Becker Muscular Dystrophy Patient: A Rare Case Report. Indonesian Journal of Physical Medicine and Rehabilitation, 13(01), 47 - 56. https://doi.org/10.36803/indojpmr.v13i01.399
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Case Report
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References
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12. Wang L,Chen M, He R, Sun Y, Yang J, Xiao L, et al. Serum creatinine distinguishes Duchenne muscular dystrophy from Becker muscular dystrophy in patients aged≤ 3 years: A Retrospective Study. Frontiers in Neurology 2017;8:196.
13. Domingos J, Sarkozy A, Mariacristina S, Muntoni F. Dystrophinopathies and limb-girdle muscular dystrophies. Neuropediatrics 2017;4(04):262-72.
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15. Shrestha S, Munakomi S. Gower Sign;2019.
16. Saha S, Joardar A, Roy S, Mondal T, Gangopadhyay G, Haldar D, et al. Serum creatine kinase and other profile of Duchenne muscular dystrophy and Becker muscular dystrophy: A cross-sectional survey in a tertiary care institution at Kolkata. Chrismed Journal of Health and Research 2021;8(3):175-81.
17. Hafner P, Phadke R, Manzur A, Smith R, Jaiser S, Schutz P, et al. Electromyography and muscle biopsy in paediatric neuromuscular disorders–Evaluation of current practice and literature review. Neuromuscular Disorders 2019;29(1):14-20.
18. De visser M. Late-onset myopathies: clinical features and diagnosis. Acta Myologica 2020;39(4):235.
19. Lanza G, Pino M, Fisicaro F, Vagli C, Cantone M, Pennisi M, et al. Motor activity and Becker’s muscular dystrophy: lights and shadows. The Physician and Sportsmedicine 2020;48(2):151-60.
20. Jensen BR, Berthelsen MP, Husu E, Christensen SB, Prahm KP, Vissing J. Body weight‐supported training in Becker and limb girdle 2I muscular dystrophy. Muscle & nerve 2016;5(2): 239-43.
21. Berthelsen MP, Husu E, Christensen SB, Prahm KP, Vissing J, Jensen BR. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular disorders 2014;24(6):492-98.
22. Doix ACM, Roeleveld K, Garcia J, Lahaut P, Tanant V, Fournier-Mehouas M, et al. Short-term neuromuscular electrical stimulation training of the tibialis anterior did not improve strength and motor function in facioscapulohumeral muscular dystrophy patients. American Journal of Physical Medicine & Rehabilitation 2017;96(4):e56-e63.
23. Khodabukus A, Madden L, Prabhu NK, Koves TR, Jackman CP, Muoio DM, et al. Electrical stimulation increases hypertrophy and metabolic flux in tissue-engineered human skeletal muscle. Biomaterials 2019;198:259-69
2. Flanigan KM. Duchenne and Becker muscular dystrophies. Neurologic clinics 2014; 32(3):671-88.
3. Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, et al. Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis. Journal of orthopaedic surgery and research 2022;17(1):1-12.
4. Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscular Disorders 2014;24(6):482-91.
5. Wein N, Alfano L, Flanigan KM. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. Pediatric Clinics of North America. 2015; 62(3):723-42.
6. Magot A, Wahbi K, Leturcq F, Jaffre S, Pereon Y, Sole G. Diagnosis and management of Becker muscular dystrophy: the French guidelines. Journal of Neurology 2023;270(10):4763-81.
7. Angelini C, Marozzo R, Pegoraro V. Current and emerging therapies in Becker muscular dystrophy (BMD). Acta Myologica 2019;38(3): 172.
8. Ciafaloni E, Kumar A, Liu K, Pandya S, Westfield C, Fox DJ, et al. Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy. Journal of pediatric rehabilitation medicine 2016;9(1):5-11.
9. Andrews JG, Wahl RA. Duchenne and Becker muscular dystrophy in adolescents: current perspectives. Adolescent health, medicine and therapeutics 2018; Volume 9:53-63.
10. Imbornoni L, Price ET, Andrews J, Meaney FJ, Ciafaloni E, Cunniff C. Diagnostic and clinical characteristics of early‐manifesting females with Duchenne or Becker muscular dystrophy. American Journal of Medical Genetics Part A 2014; 164A(11): 2769-74.
11. Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GKD, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics 2015;135(3): 513-21.
12. Wang L,Chen M, He R, Sun Y, Yang J, Xiao L, et al. Serum creatinine distinguishes Duchenne muscular dystrophy from Becker muscular dystrophy in patients aged≤ 3 years: A Retrospective Study. Frontiers in Neurology 2017;8:196.
13. Domingos J, Sarkozy A, Mariacristina S, Muntoni F. Dystrophinopathies and limb-girdle muscular dystrophies. Neuropediatrics 2017;4(04):262-72.
14. Sugiarto D, Hening L.Pemeriksaan Klinis Dasar Praktis. Ilmu Kedokteran Fisik Dan Rehabilitasi 2019;4:65.
15. Shrestha S, Munakomi S. Gower Sign;2019.
16. Saha S, Joardar A, Roy S, Mondal T, Gangopadhyay G, Haldar D, et al. Serum creatine kinase and other profile of Duchenne muscular dystrophy and Becker muscular dystrophy: A cross-sectional survey in a tertiary care institution at Kolkata. Chrismed Journal of Health and Research 2021;8(3):175-81.
17. Hafner P, Phadke R, Manzur A, Smith R, Jaiser S, Schutz P, et al. Electromyography and muscle biopsy in paediatric neuromuscular disorders–Evaluation of current practice and literature review. Neuromuscular Disorders 2019;29(1):14-20.
18. De visser M. Late-onset myopathies: clinical features and diagnosis. Acta Myologica 2020;39(4):235.
19. Lanza G, Pino M, Fisicaro F, Vagli C, Cantone M, Pennisi M, et al. Motor activity and Becker’s muscular dystrophy: lights and shadows. The Physician and Sportsmedicine 2020;48(2):151-60.
20. Jensen BR, Berthelsen MP, Husu E, Christensen SB, Prahm KP, Vissing J. Body weight‐supported training in Becker and limb girdle 2I muscular dystrophy. Muscle & nerve 2016;5(2): 239-43.
21. Berthelsen MP, Husu E, Christensen SB, Prahm KP, Vissing J, Jensen BR. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular disorders 2014;24(6):492-98.
22. Doix ACM, Roeleveld K, Garcia J, Lahaut P, Tanant V, Fournier-Mehouas M, et al. Short-term neuromuscular electrical stimulation training of the tibialis anterior did not improve strength and motor function in facioscapulohumeral muscular dystrophy patients. American Journal of Physical Medicine & Rehabilitation 2017;96(4):e56-e63.
23. Khodabukus A, Madden L, Prabhu NK, Koves TR, Jackman CP, Muoio DM, et al. Electrical stimulation increases hypertrophy and metabolic flux in tissue-engineered human skeletal muscle. Biomaterials 2019;198:259-69