Newborn screening of neuromuscular diseases.

[en] Neuromuscular diseases represent an heterogenous group of more than 400 diseases, with a very broad phenotypic spectrum. Given their rarity and complexity, neuromuscular diseases are often diagnosed with a very significant delay after which irreversible muscle damage may limit the efficacy of treatments when available. In this context, neonatal screening could constitute a solution for early detection and treatment. A systematic review of the literature in PubMed up to May 1, 2021, was conducted according to PRISMA guidelines, including classical neuromuscular diseases and diseases with a clear peripheral nervous system involvement (including central nervous system disease with severe neuropathy). We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), Pompe disease (8), X-linked adrenoleukodystrophy (5), Krabbe disease (4), myotonic dystrophy type 1 (1), metachromatic leukodystrophy (1). The future of newborn screening for neuromuscular disorders pass through a global technological switch, from a biochemical to a genetic-based approach. The rapid development of therapy also requires the possibility to quickly adapt the list of treated conditions, to allow innovative therapies to achieve their best efficacy.

Disciplines :

Genetics & genetic processes

Author, co-author :

Dangouloff, Tamara ; Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie

Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale

Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques

Language :

English

Title :

Newborn screening of neuromuscular diseases.

Publication date :

2021

Journal title :

Neuromuscular disorders : NMD

ISSN :

0960-8966

eISSN :

1873-2364

Peer reviewed :

Peer reviewed

Commentary :

Available on ORBi :

since 04 January 2022

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615 (3 by ULiège)

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Bibliography

Dubowitz, V., Screening for Duchenne muscular dystrophy. Arch Dis Child 51 (1976), 249–251, 10.1136/adc.51.4.249.
Dubowitz, V., Familial low birthweight dwarfism with an unusual facies and a skin eruption. J Med Genet 2 (1965), 12–17, 10.1136/jmg.2.1.12.
Ciafaloni, E., Fox, D.J., Pandya, S., Westfield, C.P., Puzhankara, S., Romitti, P.A., et al. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr 155 (2009), 380–385, 10.1016/j.jpeds.2009.02.007.
Lin, C.W., Kalb, S.J., Yeh, W.S, Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatr Neurol 53 (2015), 293–300, 10.1016/j.pediatrneurol.2015.06.002.
Kishnani, P.S., Amartino, H.M., Lindberg, C., Miller, T.M., Wilson, A., Keutzer, J., Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A 161A (2013), 2431–2443 https://doi.org/10.1002/ajmg.a.36110.
van Geel, B.M., Assies, J., Haverkort, E.B., Barth, P.G., Wanders, R.J., Schutgens, R.B., et al. Delay in diagnosis of X-linked adrenoleukodystrophy. Clin Neurol Neurosurg 95 (1993), 115–120, 10.1016/0303-8467(93)90004-z.
Dangouloff, T., Servais, L., Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives. Ther Clin Risk Manag 15 (2019), 1153–1161, 10.2147/TCRM.S172291.
Yang, C.-.F., Yang, C.C., Liao, H.-.C., Huang, L-Y, Chiang, C.-.C., Ho, H.-.C., et al. Very early treatment for infantile-onset pompe disease contributes to better outcomes. J Pediatr, 169, 2016 174-80.e1. https://doi.org/10.1016/j.jpeds.2015.10.078.
Delstanche, S., Servais, L., Gidaro, T, Improved muscular weakness during asthma exacerbation. JAMA Neurol 74 (2017), 353–354, 10.1001/jamaneurol.2016.4069.
Wilson, J., Jungner, G., Principles and practice of screening. 1968, WHO, Geneva.
Loeber, J.G., Platis, D., Zetterström, R.H., Almashanu, S., Boemer, F., Bonham, J.R., et al. Neonatal screening in europe revisited: an ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen, 7, 2021, 10.3390/ijns7010015.
Moher, D., Liberati, A., Tetzlaff, J., Altman, D.G, Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med, 6, 2009, e1000097, 10.1371/journal.pmed.1000097.
Ramdas, S., Servais, L., New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother 21 (2020), 307–315, 10.1080/14656566.2019.1704732.
Finkel, R.S., Chiriboga, C.A., Vajsar, J., Day, J.W., Montes, J., De Vivo, D.C., et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 388 (2016), 3017–3026, 10.1016/s0140-6736(16)31408-8.
Day, J.W., Finkel, R.S., Chiriboga, C.A., Connolly, A.M., Crawford, T.O., Darras, B.T., et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol 20 (2021), 284–293, 10.1016/S1474-4422(21)00001-6.
Baranello, G., Darras, B., Day, J., Deconinck, N., Klein, A., Masson, R., et al. Risdiplam in Type 1 spinal muscular atrophy. N Engl J Med 384:10 (2021), 915–923 https://doi.org/10.1056/NEJMoa2009965.
Servais, L., Baranello, G., Scoto, M., Daron, A., Oskoui, M., Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities. Expert Opin Investig Drugs 30 (2021), 519–527, 10.1080/13543784.2021.1904889.
Chien, Y.H., Chiang, S.C., Weng, W.C., Lee, N.C., Lin, C.J., Hsieh, W.S., et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr, 190, 2017 124-9.e1. https://doi.org/10.1016/j.jpeds.2017.06.042.
Kraszewski, J.N., Kay, D.M., Stevens, C.F., Koval, C., Haser, B., Ortiz, V., et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med 20 (2018), 608–613 https://doi.org/10.1038/gim.2017.152.
Kucera, K.S., Taylor, J.L., Robles, V.R., Clinard, K., Migliore, B., Boyea, B.L., et al. A voluntary statewide newborn screening pilot for spinal muscular atrophy: results from early check. Int J Neonatal Screen, 7(1), 2021, 20 https://doi.org/https://dx.doi.org/10.3390/ijns7010020.
Vill, K., Schwartz, O., Blaschek, A., Glaser, D., Nennstiel, U., Wirth, B., et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis, 16(1), 2021, 153 https://doi.org/https://dx.doi.org/10.1186/s13023-021-01783-8.
Boemer, F., Caberg, J.H., Dideberg, V., Dardenne, D., Bours, V., Hiligsmann, M., et al. Newborn screening for SMA in Southern Belgium. Neuromuscul Disord 29 (2019), 343–349, 10.1016/j.nmd.2019.02.003.
Kariyawasam, D.S.T., Russell, J.S., Wiley, V., Alexander, I.E., Farrar, M.A, The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Genet Med 22 (2019), 557–565 https://doi.org/10.1038/s41436-019-0673-0.
McMillan, H.J., Kernohan, K.D., Yeh, E., Amburgey, K., Boyd, J., Campbell, C., et al. Newborn screening for spinal muscular atrophy: Ontario testing and follow-up recommendations. Can J Neurol Sci, 2020, 1–8, 10.1017/cjn.2020.229.
Shinohara, M., Niba, E.T.E., Wijaya, Y.O.S., Takayama, I., Mitsuishi, C., Kumasaka, S., et al. A novel system for spinal muscular atrophy screening in newborns: Japanese pilot study. Int J Neonatal Screen, 5, 2019, 41, 10.3390/ijns5040041.
De Vivo, D.C., Bertini, E., Swoboda, K.J., Hwu, W.L., Crawford, T.O., Finkel, R.S., et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord 29 (2019), 842–856, 10.1016/j.nmd.2019.09.007.
Dangouloff, T., Vrščaj, E., Servais, L., Osredkar, D., Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go. Neuromuscul Disord 31 (2021), 574–582, 10.1016/j.nmd.2021.03.007.
Kay, D.M., Stevens, C.F., Parker, A., Saavedra-Matiz, C.A., Sack, V., Chung, W.K., et al. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med 22 (2020), 1296–1302, 10.1038/s41436-020-0824-3.
Dangouloff, T., Boemer, F., Caberg, J.H., Servais, L., Correspondence on: “Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?” by Kay et al. Genet Med 22 (2020), 1913–1914, 10.1038/s41436-020-0887-1.
Li, C., Desai, A.K., Gupta, P., Dempsey, K., Bhambhani, V., Hopkin, R.J., et al. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med 23 (2021), 845–855, 10.1038/s41436-020-01080-y.
Lai, C.-.J., Hsu, T.-.R., Yang, C.-.F., Chen, S.-.J., Chuang, Y.-.C., Niu, D.-M., Cognitive development in infantile-onset pompe disease under very early enzyme replacement therapy. J Child Neurol 31 (2016), 1617–1621, 10.1177/0883073816665549.
Chien, Y.-.H., Chiang, S.-.C., Zhang, X.K., Keutzer, J., Lee, N.-.C., Huang, A.-.C., et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122 (2008), e39–e45 https://doi.org/https://dx.doi.org/10.1542/peds.2007-2222.
Labrousse, P., Chien, Y.-.H., Pomponio, R.J., Keutzer, J., Lee, N.-.C., Akmaev, V.R., et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab 99 (2010), 379–383 https://doi.org/https://dx.doi.org/10.1016/j.ymgme.2009.12.014.
Chiang, S.-.C., Hwu, W.-.L., Lee, N.-.C., Hsu, L.-W., Chien, Y.-.H, Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Mol Genet Metab 106 (2012), 281–286, 10.1016/j.ymgme.2012.04.013.
Yang, C.-.F., Liu, H.-.C., Hsu, T.-.R., Tsai, F.-.C., Chiang, S.-.F., Chiang, C.-.C., et al. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am J Med Genet A 164A (2014), 54–61 https://doi.org/https://dx.doi.org/10.1002/ajmg.a.36197.
Klug, T.L., Swartz, L.B., Washburn, J., Brannen, C., Kiesling, J.L, Lessons learned from Pompe disease newborn screening and follow-up. Int J Neonatal Screen, 6(1), 2020, 11 https://doi.org/https://dx.doi.org/10.3390/ijns6010011.
Burton, B.K., Charrow, J., Hoganson, G.E., Fleischer, J., Grange, D.K., Braddock, S.R., et al. Newborn screening for Pompe disease in Illinois: experience with 684,290 infants. Int J Neonatal Screen 6 (2020), 8–12 https://doi.org/https://dx.doi.org/10.3390/ijns6010004.
Ficicioglu, C., Ahrens-Nicklas, R.C., Barch, J., Cuddapah, S.R., DiBoscio, B.S., DiPerna, J.C., et al. Newborn screening for Pompe disease: Pennsylvania experience. Int J Neonatal Screen, 6, 2020, 89 https://doi.org/https://dx.doi.org/10.3390/ijns6040089.
Tang, H., Feuchtbaum, L., Sciortino, S., Matteson, J., Mathur, D., Bishop, T., et al. The first year experience of newborn screening for Pompe disease in California. Int J Neonatal Screen, 6(1), 2020, 9 https://doi.org/https://dx.doi.org/10.3390/ijns6010009.
Navarrete-Martinez, J.I., Limon-Rojas, A.E., Gaytan-Garcia, M de J, Reyna-Figueroa, J., Wakida-Kusunoki, G., Delgado-Calvillo, M.D.R., et al. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: three-year findings from a screening program in a closed Mexican health system. Mol Genet Metab 121 (2017), 16–21 https://doi.org/https://dx.doi.org/10.1016/j.ymgme.2017.03.001.
Momosaki, K., Kido, J., Yoshida, S., Sugawara, K., Miyamoto, T., Inoue, T., et al. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients. J Hum Genet 64 (2019), 741–755, 10.1038/s10038-019-0603-7.
Bravo, H., Neto, E.C., Schulte, J., Pereira, J., Filho, C.S., Bittencourt, F., et al. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil. Mol Genet Metab Reports 12 (2017), 92–97 https://doi.org/https://dx.doi.org/10.1016/j.ymgmr.2017.06.006.
Dooley, J., Gordon, K.E., Dodds, L., MacSween, J., Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila) 49 (2010), 177–179, 10.1177/0009922809347777.
Shimizu-Motohashi, Y., Komaki, H., Motohashi, N., Takeda, S., Yokota, T., Aoki, Y., Restoring dystrophin expression in Duchenne muscular dystrophy: current status of therapeutic approaches. J Pers Med, 9(1), 2019, 10.3390/jpm9010001.
Ke, Q., Zhao, Z.-.Y., Griggs, R., Wiley, V., Connolly, A., Kwon, J., et al. Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment. World J Pediatr 13 (2017), 197–201 https://doi.org/https://dx.doi.org/10.1007/s12519-017-0036-3.
Mendell, J.R., Shilling, C., Leslie, N.D., Flanigan, K.M., Dahhak, R., Gastier-Foster, J., et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 71 (2012), 304–313, 10.1002/ana.23528.
Drousiotou, A., Ioannou, P., Georgiou, T., Mavrikiou, E., Christopoulos, G., Kyriakides, T., et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet Test 2 (1998), 55–60, 10.1089/gte.1998.2.55.
Moat, S.J., Bradley, D.M., Salmon, R., Clarke, A., Hartley, L., Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet 21 (2013), 1049–1053 https://doi.org/https://dx.doi.org/10.1038/ejhg.2012.301.
Chung, J., Smith, A.L., Hughes, S.C., Niizawa, G., Abdel-Hamid, H.Z., Naylor, E.W., et al. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve 53 (2016), 570–578 https://doi.org/https://dx.doi.org/10.1002/mus.24880.
Greenberg, C.R., Rohringer, M., Jacobs, H.K., Averill, N., Nylen, E., van Ommen, G.J., et al. Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening. Lancet 2 (1988), 425–427, 10.1016/s0140-6736(88)90414-x.
Ellis, J.A., Vroom, E., Muntoni, F., 195th ENMC International Workshop: newborn screening for Duchenne muscular dystrophy 14-16th December 2012, Naarden, The Netherlands. Neuromuscul Disord 23 (2013), 682–689, 10.1016/j.nmd.2013.05.008.
Drummond, L.M., Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch Dis Child 54 (1979), 362–366, 10.1136/adc.54.5.362.
Plauchu, H., Dorche, C., Cordier, M.P., Guibaud, P., Robert, J.M., Duchenne muscular dystrophy: neonatal screening and prenatal diagnosis. Lancet, 1, 1989, 669, 10.1016/s0140-6736(89)92170-3.
Scheuerbrandt, G., Lundin, A., Lövgren, T., Mortier, W., Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve 9 (1986), 11–23, 10.1002/mus.880090103.
Theadom, A., Rodrigues, M., Roxburgh, R., Balalla, S., Higgins, C., Bhattacharjee, R., et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology 43 (2014), 259–268, 10.1159/000369343.
Pascual-Gilabert, M., López-Castel, A., Artero, R., Myotonic dystrophy type 1 drug development: a pipeline toward the market. Drug Discov Today, 2021, 10.1016/j.drudis.2021.03.024.
Johnson, N.E., Butterfield, R.J., Mayne, K., Newcomb, T., Imburgia, C., Dunn, D., et al. Population-based prevalence of Myotonic dystrophy Type 1 using genetic analysis of statewide blood screening program. Neurology 96 (2021), e1045–e1053 https://doi.org/https://dx.doi.org/10.1212/WNL.0000000000011425.
Orsini, J.J., Escolar, M.L., Wasserstein, M.P., Caggana, M., Krabbe disease. et al., editors Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Stephens, K, (eds.) GeneReviews® [Internet], 1993, Seattle Univ, Washington, Seattle 1993–2020. 2000 Jun 19 [updated 2018 Oct 11]., Seattle (WA).
Wenger, D.A., Rafi, M.A., Luzi, P., Datto, J., Costantino-Ceccarini, E., Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab 70 (2000), 1–9, 10.1006/mgme.2000.2990.
Graf, W.D., Stem cell transplantation in Krabbe disease: new truths discovered and opinions change. Neurology 89 (2017), 1318–1319, 10.1212/WNL.0000000000004427.
Duffner, P.K., Caviness, V.S.J., Erbe, R.W., Patterson, M.C., Schultz, K.R., Wenger, D.A., et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med 11 (2009), 450–454, 10.1097/GIM.0b013e3181a16e04.
Wasserstein, M.P., Andriola, M., Arnold, G., Aron, A., Duffner, P., Erbe, R.W., et al. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med 18 (2016), 1235–1243, 10.1038/gim.2016.35.
Orsini, J.J., Kay, D.M., Saavedra-Matiz, C.A., Wenger, D.A., Duffner, P.K., Erbe, R.W., et al. Newborn screening for Krabbe disease in New York State: the first eight years’ experience. Genet Med 18 (2016), 239–248, 10.1038/gim.2015.211.
Minter Baerg, M.M., Stoway, S.D., Hart, J., Mott, L., Peck, D.S., Nett, S.L., et al. Precision newborn screening for lysosomal disorders. Genet Med 20 (2018), 847–854 https://doi.org/https://dx.doi.org/10.1038/gim.2017.194.
Basheeruddin, K., Shao, R., Balster, F., Gardley, P., Ashbaugh, L., Newborn screening for Krabbe disease-Illinois experience: role of psychosine in diagnosis of the disease. Int J Neonatal Screen, 7, 2021, 10.3390/ijns7020024.
Ehmann, P., Lantos, J.D., Ethical issues with testing and treatment for Krabbe disease. Dev Med Child Neurol 61 (2019), 1358–1361, 10.1111/dmcn.14258.
Mallack, E.J., Turk, B., Yan, H., Eichler, F.S., The landscape of hematopoietic stem cell transplant and gene therapy for X-linked adrenoleukodystrophy. Curr Treat Options Neurol, 21, 2019, 61, 10.1007/s11940-019-0605-y.
Health Resources and Services Administration (HRSA). Baby's first test 2020. https://www.babysfirsttest.org.
Eng, L., Regelmann, M.O., Adrenoleukodystrophy in the era of newborn screening. Curr Opin Endocrinol Diabetes Obes 27 (2020), 47–55, 10.1097/MED.0000000000000515.
Wiens, K., Berry, S.A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., et al. A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. Am J Med Genet A 179 (2019), 1205–1213, 10.1002/ajmg.a.61171.
Lee, S., Clinard, K., Young, S.P., Rehder, C.W., Fan, Z., Calikoglu, A.S., et al. Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina. JAMA Netw Open, 3, 2020, e1920356, 10.1001/jamanetworkopen.2019.20356.
Barendsen, R.W., Dijkstra, I.M.E., Visser, W.F., Alders, M., Bliek, J., Boelen, A., et al. Adrenoleukodystrophy newborn screening in the Netherlands (SCAN Study): the X-factor. Front Cell Dev Biol, 8, 2020, 499, 10.3389/fcell.2020.00499.
National Librairy of Medicine N. Clinical trial 2021. https://clinicaltrials.gov/ct2/show/NCT02952482?term=NCT02952482&draw=2&rank=1.
Rosenberg, J.B., Kaminsky, S.M., Aubourg, P., Crystal, R.G., Sondhi, D., Gene therapy for metachromatic leukodystrophy. J Neurosci Res 94 (2016), 1169–1179, 10.1002/jnr.23792.
Biffi, A., Montini, E., Lorioli, L., Cesani, M., Fumagalli, F., Plati, T., et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science, 341, 2013, 1233158, 10.1126/science.1233158.
Hong, X., Daiker, J., Sadilek, M., Ruiz-Schultz, N., Kumar, A.B., Norcross, S., et al. Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots. Genet Med 23 (2021), 555–561, 10.1038/s41436-020-01017-5.
Strauss, K.A., Swoboda, K.J., Farrar, M., McMillan, H.J., Parsons, J., Krueger, J., et al. AVXS-101 gene-replacement therapy in presymptomatic spinal muscular atrophy: SPR1NT study update. Am Acad Neurol, 2019 2019 - 71st Annu Meet.
Dangouloff, T., Burghes, A., Tizzano, E.F., Servais, L., Bertini, E., Boemer, F., et al. 244th ENMC international workshop: newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands. Neuromuscul. Disord. 30 (2020), 93–103, 10.1016/j.nmd.2019.11.002 Elsevier Ltd.
Dangouloff, T., Botty, C., Beaudart, C., Servais, L., Hiligsmann, M., Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. Orphanet J Rare Dis, 16, 2021, 47, 10.1186/s13023-021-01695-7.
Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis 5 (2018), 145–158, 10.3233/jnd-180304.
Glascock, J., Sampson, J., Connolly, A.M., Darras, B.T., Day, J.W., Finkel, R., et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis 7 (2020), 97–100, 10.3233/JND-190468.
Verhaart, I.E.C., Robertson, A., Wilson, I.J., Aartsma-Rus, A., Cameron, S., Jones, C.C., et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—a literature review. Orphanet J Rare Dis, 12, 2017, 124, 10.1186/s13023-017-0671-8.
Beckers, P., Caberg, J.-.H., Dideberg, V., Dangouloff, T., den Dunnen, J.T., Bours, V., et al. Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy. Sci Rep, 11, 2021, 10.1038/s41598-021-82725-z.
Rodríguez Cruz, P.M., Cossins, J., Beeson, D., Vincent, A, The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis. Front Mol Neurosci, 13, 2020, 226, 10.3389/fnmol.2020.610964.
Carreau, C., Benoit, C., Ahle, G., Cauquil, C., Roubertie, A., Lenglet, T., et al. Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies. J Neurol Neurosurg Psychiatry, 2020, 10.1136/jnnp-2020-323304.
Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., et al. X-linked myotubular myopathy: a prospective international natural history study. Neurology 92 (2019), e1852–e1867 https://doi.org/10.1212/WNL.0000000000007319.
Amburgey, K., Tsuchiya, E., de Chastonay, S., Glueck, M., Alverez, R., Nguyen, C.-.T., et al. A natural history study of X-linked myotubular myopathy. Neurology 89 (2017), 1355–1364 https://doi.org/10.1212/WNL.0000000000004415.
Duong, T., Harding, G., Mannix, S., Abel, C., Phillips, D., Alfano, L.N., et al. Use of the children's hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND) in X-linked myotubular myopathy: content validity and psychometric performance. J Neuromuscul Dis 8 (2021), 63–77, 10.3233/JND-200479.
Shieh, P.B., Bönnemann, C.G., Müller-Felber, W., Blaschek, A., Dowling, J.J., Kuntz, N.L., et al. Re: “moving forward after two deaths in a gene therapy trial of myotubular myopathy” by Wilson and Flotte. Hum Gene Ther, 31, 2020, 787, 10.1089/hum.2020.217.
Tasfaout, H., Cowling, B.S., Laporte, J., Centronuclear myopathies under attack: a plethora of therapeutic targets. J Neuromuscul Dis 5 (2018), 387–406, 10.3233/JND-180309.