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Becker muscular dystrophy, atypical

MedGen UID:
864912
•Concept ID:
C4016475
•
Finding
Synonym: BECKER MUSCULAR DYSTROPHY, ATYPICAL
 
OMIM®: 300377

Professional guidelines

PubMed

EMQN best practice guidelines for genetic testing in dystrophinopathies.
Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A
Eur J Hum Genet 2020 Sep;28(9):1141-1159. Epub 2020 May 18 doi: 10.1038/s41431-020-0643-7. PMID: 32424326Free PMC Article

Recent clinical studies

Etiology

Thrombotic Microangiopathy Associated with Systemic Adeno-Associated Virus Gene Transfer: Review of Reported Cases.
Laforet GA
Hum Gene Ther 2025 Feb;36(3-4):64-76. Epub 2025 Jan 16 doi: 10.1089/hum.2024.156. PMID: 39817875
Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes.
Lao YE, Molden E, Kringen MK, Annexstad EJ, Saeverud HA, Jacobsen D, Hovda KE
Basic Clin Pharmacol Toxicol 2020 Jul;127(1):47-51. Epub 2020 Feb 5 doi: 10.1111/bcpt.13389. PMID: 31977139
Unusual Presentations of Dystrophinopathies in Childhood.
Allen NM, Ewer A, Nakou V, Konstantoulaki E, Wraige E, Gowda V, Jungbluth H
Pediatrics 2018 Apr;141(Suppl 5):S510-S514. doi: 10.1542/peds.2017-2391. PMID: 29610182
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A
Eur J Paediatr Neurol 2017 May;21(3):475-484. Epub 2016 Dec 19 doi: 10.1016/j.ejpn.2016.12.005. PMID: 28027854
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature.
Reimers CD, Schlotter B, Eicke BM, Witt TN
J Neurol Sci 1996 Nov;143(1-2):46-56. doi: 10.1016/s0022-510x(96)00037-8. PMID: 8981297

Diagnosis

Thrombotic Microangiopathy Associated with Systemic Adeno-Associated Virus Gene Transfer: Review of Reported Cases.
Laforet GA
Hum Gene Ther 2025 Feb;36(3-4):64-76. Epub 2025 Jan 16 doi: 10.1089/hum.2024.156. PMID: 39817875
Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.
Chen L, Luo X, Wang H, Tian Y, Liu Y
BMC Med Genomics 2024 Sep 9;17(1):227. doi: 10.1186/s12920-024-01997-2. PMID: 39251998Free PMC Article
Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability.
Noda S, Murakami A, Kimura S, Minamiyama M, Katsuno M, Kuru S
Intern Med 2021 Dec 15;60(24):3983-3986. Epub 2021 Jun 19 doi: 10.2169/internalmedicine.7248-21. PMID: 34148958Free PMC Article
EMQN best practice guidelines for genetic testing in dystrophinopathies.
Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A
Eur J Hum Genet 2020 Sep;28(9):1141-1159. Epub 2020 May 18 doi: 10.1038/s41431-020-0643-7. PMID: 32424326Free PMC Article
Co-occurring Duchenne muscular dystrophy and hypertrophic cardiomyopathy in an adult with atypical cardiac phenotype.
Tandon A, Taylor MD, Cripe LH
Cardiol Young 2015 Feb;25(2):355-7. Epub 2014 Jan 29 doi: 10.1017/S1047951114000067. PMID: 24472441Free PMC Article

Therapy

Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability.
Noda S, Murakami A, Kimura S, Minamiyama M, Katsuno M, Kuru S
Intern Med 2021 Dec 15;60(24):3983-3986. Epub 2021 Jun 19 doi: 10.2169/internalmedicine.7248-21. PMID: 34148958Free PMC Article
Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes.
Lao YE, Molden E, Kringen MK, Annexstad EJ, Saeverud HA, Jacobsen D, Hovda KE
Basic Clin Pharmacol Toxicol 2020 Jul;127(1):47-51. Epub 2020 Feb 5 doi: 10.1111/bcpt.13389. PMID: 31977139
Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy.
Pithukpakorn M
J Med Assoc Thai 2011 Feb;94 Suppl 1:S250-2. PMID: 21721455
Matrix metalloproteinase inhibitor batimastat alleviates pathology and improves skeletal muscle function in dystrophin-deficient mdx mice.
Kumar A, Bhatnagar S, Kumar A
Am J Pathol 2010 Jul;177(1):248-60. Epub 2010 May 14 doi: 10.2353/ajpath.2010.091176. PMID: 20472898Free PMC Article
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
Loke KY, Poh LK, Lee WW, Lai PS
Horm Res 2009;71(5):298-304. Epub 2009 Apr 1 doi: 10.1159/000208804. PMID: 19339795

Prognosis

Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E
J Pediatr Endocrinol Metab 2019 Aug 27;32(8):863-869. doi: 10.1515/jpem-2018-0440. PMID: 31219797
Unusual Presentations of Dystrophinopathies in Childhood.
Allen NM, Ewer A, Nakou V, Konstantoulaki E, Wraige E, Gowda V, Jungbluth H
Pediatrics 2018 Apr;141(Suppl 5):S510-S514. doi: 10.1542/peds.2017-2391. PMID: 29610182
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.
Fayssoil A, Yaou RB, Ogna A, Leturcq F, Nardi O, Clair B, Wahbi K, Lofaso F, Laforet P, Duboc D, Orlikowski D, Annane D
ESC Heart Fail 2017 Nov;4(4):527-534. Epub 2017 May 18 doi: 10.1002/ehf2.12165. PMID: 29154419Free PMC Article
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S
Brain 1996 Dec;119 ( Pt 6):1895-909. doi: 10.1093/brain/119.6.1895. PMID: 9009996
Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy.
Spiegler AW, Hausmanowa-Petrusewicz I, Borkowska J, Herrmann FH
J Neurol 1987 Apr;234(3):163-71. doi: 10.1007/BF00314137. PMID: 3585425

Clinical prediction guides

Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.
Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, Schrauwen I, Wang Z, Yuan Y
J Neurol 2023 Feb;270(2):925-937. Epub 2022 Nov 2 doi: 10.1007/s00415-022-11432-0. PMID: 36319768
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E
J Pediatr Endocrinol Metab 2019 Aug 27;32(8):863-869. doi: 10.1515/jpem-2018-0440. PMID: 31219797
Autism spectrum disorders in children affected by Duchenne muscular dystrophy.
Parisi L, Di Filippo T, Glorioso P, La Grutta S, Epifanio MS, Roccella M
Minerva Pediatr 2018 Jun;70(3):233-239. doi: 10.23736/S0026-4946.16.04380-2. PMID: 29795071
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.
Fayssoil A, Yaou RB, Ogna A, Leturcq F, Nardi O, Clair B, Wahbi K, Lofaso F, Laforet P, Duboc D, Orlikowski D, Annane D
ESC Heart Fail 2017 Nov;4(4):527-534. Epub 2017 May 18 doi: 10.1002/ehf2.12165. PMID: 29154419Free PMC Article
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S
Brain 1996 Dec;119 ( Pt 6):1895-909. doi: 10.1093/brain/119.6.1895. PMID: 9009996

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