Pediatrik Rehabilitasyona Algoritmik Yaklaşım-Musküler Distrofiler: Tanım, Sınıflandırma ve Güncel Yaklaşım

Happi Mbakam C, Lamothe G, Tremblay G, Tremblay JP. CRISPR-Cas9 gene therapy for Duchenne muscular dystrophy. Neurotherapeutics. 2022 Apr;19(3):931-941. doi:10.1007/s13311-022-01197-9. Epub 2022 Feb 14. PMID: 35165856; PMCID: PMC9294086.

Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW. Multiplex ligation-dependent probe amplification in X-linked recessive muscular dystrophy in Korean subjects. Yonsei Med J. 2017 May;58(3):613-618. doi:10.3349/ymj.2017.58.3.613. PMID: 28332368; PMCID: PMC5368148.

Brogna C, Mercuri E. Corticosteroid therapy in Duchenne muscular dystrophy: management and new insights. Dev Med Child Neurol. 2025 Sep 4. doi:10.1111/dmcn.16485. Epub ahead of print. PMID: 40906678.

Dzierlega K, Yokota T. Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy. Gene Ther. 2020 Sep;27(9):407-416. doi:10.1038/s41434-020-0156-6. Epub 2020 Jun 1. PMID: 32483212.

Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025 Jan;31(1):332-341. doi:10.1038/s41591-024-03304-z. Epub 2024 Oct 9. PMID: 39385046; PMCID: PMC11750718.

Dewi NM, Meiliana A, Defi IR, Amalia R, Sartika CR, Wijaya A, Barliana MI. Targeted therapy for skeletal muscle fibrosis: regulation of myostatin, TGF-β, MMP, and TIMP to maintain extracellular matrix homeostasis. Biologics: Targets & Therapy. 2025 Apr 17;19:213-229. doi:10.2147/BTT.S508221. PMID: 40260056; PMCID: PMC12011048.

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H. Natural history of Becker muscular dystrophy: a multicenter study of 225 patients. Ann Clin Transl Neurol. 2023 Dec;10(12):2360-2372. doi:10.1002/acn3.51925. Epub 2023 Oct 26. PMID: 37882106; PMCID: PMC10723226.

Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group. Diagnosis and management of Becker muscular dystrophy: the French guidelines. J Neurol. 2023 Oct;270(10):4763-4781. doi:10.1007/s00415-023-11837-5. Epub 2023 Jul 9. PMID: 37422773.

Hammer S, Toussaint M, Vollsæter M, Nesbjørg Tvedt M, Drange Røksund O, Reychler G, Lund H, Andersen T. Exercise training in Duchenne muscular dystrophy: a systematic review and meta-analysis. J Rehabil Med. 2022 Jan 11;54:jrm00250. doi:10.2340/jrm.v53.985. PMID: 35642324; PMCID: PMC8862644.

Erden Güner A, Öztürk D, Sarı M, Çelik Hİ, Tunç AR, Ünver B, Kılınç HE, Korkmaz N, Turanoğlu M, Gürsoy S, Karaduman AA. Maintaining physical health in individuals with Duchenne muscular dystrophy through telerehabilitation. Phys Occup Ther Pediatr. 2024;44(6):812-828. doi:10.1080/01942638.2024.2376055. Epub 2024 Jul 16. PMID: 39014867.

Leone E, Pandyan A, Rogers A, Kulshrestha R, Hill J, Philp F. Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):442-453. doi:10.1136/jnnp-2023-331988. PMID: 38124127; PMCID: PMC11041561.

Kurt M, Savaş D, Şimşek TT, Yiş U. Factors associated with balance ability in Duchenne and Becker muscular dystrophies. Gait Posture. 2023 Jan;99:139-145. doi:10.1016/j.gaitpost.2022.11.008. Epub 2022 Nov 17. PMID: 36435068.

Happi Mbakam C, Lamothe G, Tremblay G, Tremblay JP. CRISPR-Cas9 gene therapy for Duchenne muscular dystrophy. Neurotherapeutics. 2022 Apr;19(3):931-941. doi:10.1007/s13311-022-01197-9. Epub 2022 Feb 14. PMID: 35165856; PMCID: PMC9294086.

Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW. Multiplex ligation-dependent probe amplification in X-linked recessive muscular dystrophy in Korean subjects. Yonsei Med J. 2017 May;58(3):613-618. doi:10.3349/ymj.2017.58.3.613. PMID: 28332368; PMCID: PMC5368148.

Brogna C, Mercuri E. Corticosteroid therapy in Duchenne muscular dystrophy: management and new insights. Dev Med Child Neurol. 2025 Sep 4. doi:10.1111/dmcn.16485. Epub ahead of print. PMID: 40906678.

Dzierlega K, Yokota T. Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy. Gene Ther. 2020 Sep;27(9):407-416. doi:10.1038/s41434-020-0156-6. Epub 2020 Jun 1. PMID: 32483212.

Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025 Jan;31(1):332-341. doi:10.1038/s41591-024-03304-z. Epub 2024 Oct 9. PMID: 39385046; PMCID: PMC11750718.

Dewi NM, Meiliana A, Defi IR, Amalia R, Sartika CR, Wijaya A, Barliana MI. Targeted therapy for skeletal muscle fibrosis: regulation of myostatin, TGF-β, MMP, and TIMP to maintain extracellular matrix homeostasis. Biologics: Targets & Therapy. 2025 Apr 17;19:213-229. doi:10.2147/BTT.S508221. PMID: 40260056; PMCID: PMC12011048.

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H. Natural history of Becker muscular dystrophy: a multicenter study of 225 patients. Ann Clin Transl Neurol. 2023 Dec;10(12):2360-2372. doi:10.1002/acn3.51925. Epub 2023 Oct 26. PMID: 37882106; PMCID: PMC10723226.

Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group. Diagnosis and management of Becker muscular dystrophy: the French guidelines. J Neurol. 2023 Oct;270(10):4763-4781. doi:10.1007/s00415-023-11837-5. Epub 2023 Jul 9. PMID: 37422773.

Hammer S, Toussaint M, Vollsæter M, Nesbjørg Tvedt M, Drange Røksund O, Reychler G, Lund H, Andersen T. Exercise training in Duchenne muscular dystrophy: a systematic review and meta-analysis. J Rehabil Med. 2022 Jan 11;54:jrm00250. doi:10.2340/jrm.v53.985. PMID: 35642324; PMCID: PMC8862644.

Erden Güner A, Öztürk D, Sarı M, Çelik Hİ, Tunç AR, Ünver B, Kılınç HE, Korkmaz N, Turanoğlu M, Gürsoy S, Karaduman AA. Maintaining physical health in individuals with Duchenne muscular dystrophy through telerehabilitation. Phys Occup Ther Pediatr. 2024;44(6):812-828. doi:10.1080/01942638.2024.2376055. Epub 2024 Jul 16. PMID: 39014867.

Leone E, Pandyan A, Rogers A, Kulshrestha R, Hill J, Philp F. Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):442-453. doi:10.1136/jnnp-2023-331988. PMID: 38124127; PMCID: PMC11041561.

Kurt M, Savaş D, Şimşek TT, Yiş U. Factors associated with balance ability in Duchenne and Becker muscular dystrophies. Gait Posture. 2023 Jan;99:139-145. doi:10.1016/j.gaitpost.2022.11.008. Epub 2022 Nov 17. PMID: 36435068.