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Intermediate muscular dystrophy

MedGen UID:
864914
•Concept ID:
C4016477
•
Finding
Synonym: INTERMEDIATE MUSCULAR DYSTROPHY
 
OMIM®: 300377

Professional guidelines

PubMed

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.
Bello L, Pegoraro E
Acta Myol 2016 Dec;35(3):122-127. PMID: 28484312Free PMC Article

Recent clinical studies

Etiology

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L, Shi Y, Hu C, Zhou S, Li H, Zhang L, Qian C, Zhou Y, Wang Y, Li X
Orphanet J Rare Dis 2024 Aug 24;19(1):311. doi: 10.1186/s13023-024-03217-7. PMID: 39182149Free PMC Article
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.
Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM; Italian DMD Network and the United Dystrophinopathy Project
Neurology 2022 Feb 15;98(7):e730-e738. Epub 2021 Dec 22 doi: 10.1212/WNL.0000000000013246. PMID: 34937785Free PMC Article
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.
Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E
J Neuromuscul Dis 2018;5(2):193-203. doi: 10.3233/JND-170225. PMID: 29614690Free PMC Article
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F
JAMA Neurol 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. PMID: 24217213
Prevalence of cardiomyopathy in Duchenne and Becker's muscular dystrophy.
Sultan A, Fayaz M
J Ayub Med Coll Abbottabad 2008 Apr-Jun;20(2):7-13. PMID: 19385447

Diagnosis

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L, Shi Y, Hu C, Zhou S, Li H, Zhang L, Qian C, Zhou Y, Wang Y, Li X
Orphanet J Rare Dis 2024 Aug 24;19(1):311. doi: 10.1186/s13023-024-03217-7. PMID: 39182149Free PMC Article
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
Santin R, Vieira IA, Nunes JC, Benevides ML, Quadros F, Brusius-Facchin AC, Macedo G, Bertoni APS
Acta Myol 2021 Jun;40(2):93-100. Epub 2021 Jun 30 doi: 10.36185/2532-1900-048. PMID: 34355126Free PMC Article
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.
Bello L, Pegoraro E
Acta Myol 2016 Dec;35(3):122-127. PMID: 28484312Free PMC Article
Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.
Toh ZY, Thandar Aung-Htut M, Pinniger G, Adams AM, Krishnaswarmy S, Wong BL, Fletcher S, Wilton SD
PLoS One 2016;11(1):e0145620. Epub 2016 Jan 8 doi: 10.1371/journal.pone.0145620. PMID: 26745801Free PMC Article

Therapy

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.
Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E
J Neuromuscul Dis 2018;5(2):193-203. doi: 10.3233/JND-170225. PMID: 29614690Free PMC Article
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F
JAMA Neurol 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. PMID: 24217213
Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.
Dinçer P, Topaloğlu H, Ayter S, Ozgüç M, Taşdemir HA, Renda Y
Brain Dev 1996 Mar-Apr;18(2):91-4. doi: 10.1016/0387-7604(95)00128-x. PMID: 8733896

Prognosis

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L, Shi Y, Hu C, Zhou S, Li H, Zhang L, Qian C, Zhou Y, Wang Y, Li X
Orphanet J Rare Dis 2024 Aug 24;19(1):311. doi: 10.1186/s13023-024-03217-7. PMID: 39182149Free PMC Article
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.
Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E
J Neuromuscul Dis 2018;5(2):193-203. doi: 10.3233/JND-170225. PMID: 29614690Free PMC Article
Low-level dystrophin expression attenuating the dystrophinopathy phenotype.
Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM
Neuromuscul Disord 2018 Feb;28(2):116-121. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.007. PMID: 29305136Free PMC Article
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.
Bello L, Pegoraro E
Acta Myol 2016 Dec;35(3):122-127. PMID: 28484312Free PMC Article
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F
JAMA Neurol 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. PMID: 24217213

Clinical prediction guides

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.
Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM; Italian DMD Network and the United Dystrophinopathy Project
Neurology 2022 Feb 15;98(7):e730-e738. Epub 2021 Dec 22 doi: 10.1212/WNL.0000000000013246. PMID: 34937785Free PMC Article
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
Santin R, Vieira IA, Nunes JC, Benevides ML, Quadros F, Brusius-Facchin AC, Macedo G, Bertoni APS
Acta Myol 2021 Jun;40(2):93-100. Epub 2021 Jun 30 doi: 10.36185/2532-1900-048. PMID: 34355126Free PMC Article
Low-level dystrophin expression attenuating the dystrophinopathy phenotype.
Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM
Neuromuscul Disord 2018 Feb;28(2):116-121. Epub 2017 Nov 23 doi: 10.1016/j.nmd.2017.11.007. PMID: 29305136Free PMC Article
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F
JAMA Neurol 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. PMID: 24217213
Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.
Dinçer P, Topaloğlu H, Ayter S, Ozgüç M, Taşdemir HA, Renda Y
Brain Dev 1996 Mar-Apr;18(2):91-4. doi: 10.1016/0387-7604(95)00128-x. PMID: 8733896

Supplemental Content

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