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Page 1
Prenatal diagnosis.
Kabra M. Kabra M. Indian J Pediatr. 2003 Jan;70(1):81-5. doi: 10.1007/BF02722749. Indian J Pediatr. 2003. PMID: 12619957 Review.
Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present communication is an effort to present the clinician's perspective of prenatal diagnosis....
Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The pres …
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
Meola G. Meola G. Acta Myol. 2013 Dec;32(3):154-65. Acta Myol. 2013. PMID: 24803843 Free PMC article. Review.
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. ...DM1 may present in four different forms: congenital, early childhood, adult onset and lat …
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive my …
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M. Hofmeister F, et al. BMC Neurol. 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. BMC Neurol. 2021. PMID: 34172001 Free PMC article.
BACKGROUND: Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia. ...Furthermore, concomitant diseases, analysis of serum creatine kinase, ele …
BACKGROUND: Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders nee …
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H. Kamsteeg EJ, et al. Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30. Eur J Hum Genet. 2012. PMID: 22643181 Free PMC article.
Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respirator …
Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severi …
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.
Yanoov-Sharav M, Leshinsky-Silver E, Cohen S, Vinkler C, Michelson M, Lerman-Sagie T, Ginzberg M, Sadeh M, Lev D. Yanoov-Sharav M, et al. J Genet Couns. 2012 Aug;21(4):557-63. doi: 10.1007/s10897-011-9422-5. Epub 2011 Nov 23. J Genet Couns. 2012. PMID: 22109111
Facioscapulohumeral muscular dystrophy (FSHD), is a dominantly inherited, late onset, progressive disease. ...
Facioscapulohumeral muscular dystrophy (FSHD), is a dominantly inherited, late onset, progressive disease. ...
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Mair D, et al. Brain Pathol. 2020 Sep;30(5):877-896. doi: 10.1111/bpa.12864. Epub 2020 Jun 15. Brain Pathol. 2020. PMID: 32419263 Free PMC article.
Pathogenic mutations were found in genes typically linked to vacuolar myopathy (GNE, LDB3/ZASP, MYOT, DES and GAA), but also in genes not regularly associated with severely altered autophagy (FKRP, DYSF, CAV3, COL6A2, GYG1 and TRIM32) and in the digenic facioscapulohumeral mus …
Pathogenic mutations were found in genes typically linked to vacuolar myopathy (GNE, LDB3/ZASP, MYOT, DES and GAA), but also in genes not re …
Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
American Association of Neuromuscular & Electrodiagnostic Medicine. American Association of Neuromuscular & Electrodiagnostic Medicine. Muscle Nerve. 2009 Jul;40(1):149-60. doi: 10.1002/mus.21393. Muscle Nerve. 2009. PMID: 19533647
The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. ...An algorithm for the diagnosis of late …
The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the hete …
Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.
Harish P, Malerba A, Dickson G, Bachtarzi H. Harish P, et al. Hum Gene Ther. 2015 May;26(5):286-92. doi: 10.1089/hum.2015.014. Epub 2015 May 11. Hum Gene Ther. 2015. PMID: 25860803 Review.
Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles of the eyes (causing ptosis), throat (leading to dysphagia), and limbs (causing proximal limb weakness) are mostly affected. ...In vitro an …
Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles …
Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.
Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y. Yoshida K, et al. J Hum Genet. 2007;52(8):675-679. doi: 10.1007/s10038-007-0170-1. Epub 2007 Jul 5. J Hum Genet. 2007. PMID: 17611709
A nationwide survey was conducted for predictive genetic testing for late-onset, incurable neurological diseases. A questionnaire was sent to 125 university hospitals and national hospitals, and was returned by 69% of them. ...A total of 322 clients were accumulated …
A nationwide survey was conducted for predictive genetic testing for late-onset, incurable neurological diseases. A questionna …
Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.
Wertz DC, Reilly PR. Wertz DC, et al. Am J Hum Genet. 1997 Nov;61(5):1163-8. doi: 10.1086/301593. Am J Hum Genet. 1997. PMID: 9345088 Free PMC article.
Most laboratories are responsive to parental requests. For 12 of 13 late-onset disorders, the majority of laboratories that offered testing had had requests to test children. ...Majorities had received requests to test healthy children for carrier status for 10 of 1 …
Most laboratories are responsive to parental requests. For 12 of 13 late-onset disorders, the majority of laboratories that of …
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