Familial, genetically verified case of early-onset facioscapulohumeral muscular dystrophy
Keywords:
muscular dystrophy, facioscapulohumeral muscular dystrophy, infantile FSHD, early oncet FSHD, D4Z4, SMCHD1 gene, DNMT3B geneAbstract
Facioscapulohumeral muscular dystrophy accounts for one in 15,000-20,000 healthy people and is the third most common form of muscular dystrophy after Duchenne muscular dystrophy and myo tonic muscular dystrophy. From a genetic point of view, there are 2 subtypes - FSHD 1 and FSHD 2, causing the same phenotype.
The disease is usually expressed in the second or third decade of life, but a clinical picture is possible from birth to 60-70 years of age. The manifestation of clinical symptoms before the age of 10 is associated with an infantile form of the disease – infantile FSHD or FSHD with an early onset, the frequency of which is significantly lower than the form in adults. The early, infantile form of FSHD is due to a reduced number of D4Z4 repeats in a specific region of chromosome 4 and is associated with early onset of symptoms and faster and more severe evolution.
References
Milanov, I., Tournev, I., Chamova, T. Nacionalen konsensus za diagnostika, lechenie i profilaktika na nasledstvenite nevromuskulni zaboliavaniia. Bylgarsko Druzhestvo po Nevrologiia.
Brooke, MH. Clinical examination of patients with neuromuscular disease. Adv Neurol 1977, 17, 25-39.
Brouwer, OF., Padberg, GW., Wijmenga, C., Frants, RR. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol 1994, 51, 387-394.
Chen, T.H., Lai, Y.H., Lee, P.L., Hsu, J.H., Goto, K., Hayashi, Y.K., Nishino, I., Lin, C.W., Shih, H.H., Huang, C.C., et al. Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short ecori fragment. Neuromuscul. Disord. 2013, 23, 298-305.
Chen, T.H., Wu, Y Z., Tseng, Y H. Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review. Int J Mol Sci. 2020 Oct, 21, 20, 7783.
Daxinger, L., Tapscott, S.J., van der Maarel, S.M. Genetic and epigenetic contributors to fshd. Curr. Opin. Genet. Dev. 2015, 33, 56-61.
Ferreboeuf, M., Mariot, V., Bessieres, B. et al. Dux4 and dux4 downstream target genes are expressed in fetal fshd muscles. Hum. Mol. Genet. 2014, 23, 171-181.
Goselink, R.J.M., Mul, K., van Kernebeek, C.R., et al. Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy. Neurology. 2019, 92, 378-385.
Goselink, R J M., Schreuder, T H A., van Alfen, N., et al. Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study. Ann Neurol. 2018, 11, 84, 5, 627-637.
Goselink, R J M., Voermans, N C., Okkersen, K., et al. Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data. Neuromuscul Disord 2017 Dec, 27, 12, 1077-1083.
Hamel, J., Tawil, R. Facioscapulohumeral muscular dystrophy: Update on pathogenesis and future treatments. Neurotherapeutics. 2018, 15, 863-871.
Himeda, C.L., Jones, P.L. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy. Ann. Rev. Genom. Hum. Genet. 2019,20,265-291.
Lek, A., Rahimov, F., Jones, P.L., Kunkel, L.M. Emerging preclinical animal models for FSHD. Trends Mol. Med. 2015, 21, 295-306.
Liew, W.K.M., van der Maare, l S.M., Tawil, R. Chapter 32 – Facioscapulohumeral Dystrophy. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2nd ed. Academic Press; San Diego, CA, USA, 2015, 620-630.
Lim, K.R.Q., Nguyen, Q., Yokota, T. DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy. Int. J. Mol. Sci. 2020, 21,729-735.
Magdinier, F., Upadhyaya, M. Facioscapulohumeral Muscular Dystrophy: Genetics. eLS John Wiley & Sons, Ltd.; Hoboken, NJ, USA, 2018, 1.
Mah, J.K., Chen, Y.W. A pediatric review of facioscapulohumeral muscular dystrophy. J. Pediatr. Neurol. 2018, 16, 222-231.
Mul, K., Lassche, S., Voermans, N.C., Padberg, G.W., Horlings, C.G., van Engelen, B.G. What’s in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pr. Neurol. 2016, 16, 201-207.
Nikolic, A., Ricci, G., Sera, F., Bucci, E., et al. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 d4z4 reduced alleles: Experience of the fshd italian national registry. BMJ Open. 2016, 6, 007798.
Ruggiero, L., Mele, F., Manganelli, F., et al. Phenotypic variability among patients with d4z4 reduced allele facioscapulohumeral muscular dystrophy. JAMA Netw. Open. 2020, 3, 204040.
Statland J.M. Chapter 30 – Facioscapulohumeral muscular dystrophy. In: Rosenberg, R.N., Pascual, J.M., editors. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease. 6th ed. Academic Press; San Diego, CA, USA, 2020, 511-523.
Steel, D., Main, M., Manzur, A., Muntoni, F., Munot, P. Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood. Dev. Med. Child Neurol. 2019, 61, 964-971.
Tawil, R. Facioscapulohumeral muscular dystrophy. Curr. Neurol. Neurosci. Rep. 2004, 4, 51-54.
Tawil, R., Kissel, J.T., Heatwole, C., Pandya, S., Gronseth, G., Benatar, M. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015, 85, 357-364. 25. Trevisan, C.P., Pastorello, E., Tomelleri, G., Vercelli, L., Bruno,
C., Scapolan, S., Siciliano, G., Comacchio, F. Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions. Eur. J. Neurol. 2008, 15, 1353-1358.
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