Nöromusküler Hastalıklara Tanısal Yaklaşım
Özet
Nöromusküler hastalıkların tanısal yaklaşımında klinik öykü ve fizik muayene ile başlayan sistematik bir değerlendirme süreci hayati öneme sahiptir. Hastalıkların lokalizasyonu ve tutulum paternlerinin belirlenmesi, kreatin kinaz düzeyi, genetik analizler, elektrofizyolojik çalışmalar ve görüntüleme yöntemlerinin etkin kullanımını sağlar. Günümüzde yeni nesil dizileme teknolojileri, spesifik fenotiplerde ve ailevi yatkınlıklarda tanı başarısını önemli ölçüde artırmıştır. Kesin tanı konulamayan kompleks olgularda ise genomik ve omik yaklaşımların entegre edilmesi, modern tanı algoritmasının temelini oluşturmaktadır.
A systematic diagnostic approach to neuromuscular diseases begins with a thorough clinical evaluation to identify specific patterns of weakness and muscle involvement. Accurate diagnosis integrates patient history with creatine kinase levels, genetic analysis, electrophysiological studies, and advanced imaging techniques like MRI or muscle ultrasound. Next-generation sequencing has revolutionized the field, significantly increasing diagnostic yields for specific phenotypes and genetic predispositions. For complex cases where traditional methods are inconclusive, integrating genomic and omics approaches provides a more robust framework for achieving a definitive diagnosis.
Referanslar
Harmelink M. Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Clin Perinatol. 2020 Mar;47(1):197-209.
Durmus H, Shen XM, Serdaroglu-Oflazer P, et al. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. Neuromuscul Disord. 2018 Apr;28(4):315-322.
Schmidt C, Abicht A, Krampfl K, et al. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord. 2003 Mar;13(3):245-51.
Yiş U, Diniz G, Hazan F, et al. Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey. Acta Myol. 2018 Sep 1;37(3):210-220.
Balci B, Aurino S, Haliloglu G, et al. Calpain-3 mutations in Turkey. Eur J Pediatr. 2006 May;165(5):293-8.
Dinçer P, Leturcq F, Richard I, et al. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol. 1997 Aug;42(2):222-9.
Balci B, Wilichowski E, Haliloğlu G, et al. Beta-sarcoglycan gene mutations in Turkey. Acta Myol. 2004 Dec;23(3):154-8.
Kirik S, Ozgur B, Isikay S, et al. Limb girdle 2E tanılı hastada SGCB geninde tanımlanan yeni mutasyon. 1.Ulusal Nöromusküler Hastalıklar Kongresi Bildiri Kitab, 2017, s28.
Brusa R, Magri F, Papadimitriou D, et al. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. Neuromuscul Disord. 2018 Jun;28(6):532-537.
Ikenberg E, Karin I, Ertl-Wagner B, et al. Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. Neuromuscul Disord. 2017 Sep;27(9):856-860.
Daimagüler HS, Akpulat U, Özdemir Ö, et al. Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am J Med Genet A. 2021 Jun;185(6):1678-1690.
Lehtokari VL, Pelin K, Donner K, et al. Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet. 2008 Sep;16(9):1055-61.
Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5.
Tüysüz B, Bayrakli F, DiLuna ML, et al. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 2008 May;9(2):119-25.
Topaloglu H. Epidemiology of muscular dystrophies in the Mediterranean area. Acta Myol. 2013 Dec;32(3):138-41.
Fay AJ. Neuromuscular Diseases of the Newborn. Semin Pediatr Neurol. 2019 Dec;32:100771.
Fardeau M, Desguerre I. Diagnostic workup for neuromuscular diseases. Handb Clin Neurol. 2013;113:1291-7.
Barohn RJ, Dimachkie MM, Jackson CE. A pattern recognition approach to patients with a suspected myopathy. Neurol Clin. 2014 Aug;32(3):569-93.
Caetano AP, Alves P. Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know. Semin Musculoskelet Radiol. 2019 Jun;23(3):e82-e106.
Pasnoor M, Dimachkie MM. Approach to Muscle and Neuromuscular Junction Disorders. Continuum (Minneap Minn). 2019 Dec;25(6):1536-1563.
Mercuri E, Pera MC, Brogna C. Neonatal hypotonia and neuromuscular conditions. Handb Clin Neurol. 2019;162:435-448.
Straub V, Murphy A, Udd B. LGMD workshop study group. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord. 2018 Aug;28(8):702-710.
DeSimone AM, Pakula A, Lek A, Emerson CP Jr. Facioscapulohumeral Muscular Dystrophy. Compr Physiol. 2017 Sep 12;7(4):1229-1279.
Chan EK, Kornberg AJ, Ryan MM. A diagnostic approach to recurrent myalgia and rhabdomyolysis in children. Arch Dis Child. 2015 Aug;100(8):793-7.
van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis. 2009 Mar;10(3):97-121.
Tarnopolsky MA. Metabolic Myopathies. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851.
Vladutiu GD. Complex phenotypes in metabolic muscle diseases. Muscle Nerve. 2000 Aug;23(8):1157-9.
Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol. 2018 Feb;18(1):14-26.
Venance SL. Approach to the Patient With HyperCKemia. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1803-1814.
Brandom BW, Veyckemans F. Neuromuscular diseases in children: a practical approach. Paediatr Anaesth. 2013 Sep;23(9):765-9.
De Vivo DC, Darras BT, Ryan MM, Jones HR. Introduction: Historical perspectives. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 3-16
Pavone P, Cho SY, Praticò AD, Falsaperla R, Ruggieri M, Jin DK. Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. Medicine (Baltimore). 2018 Sep;97(36):e12124.
Haliloglu G, Topaloglu H. Arthrogryposis and fetal hypomobility syndrome. Handb Clin Neurol. 2013;113:1311-9.
Topaloglu H. Core myopathies - a short review. Acta Myol. 2020 Dec 1;39(4):266-273. doi: 10.36185/2532-1900-029.
Yis U, Baydan F, Karakaya M, Hız Kurul S, Cirak S. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. Biomed Res Int. 2016;2016:3128735.
Bakker E, Van Broeckhoven C, Bonten EJ, et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature. 1987 Oct 8-14;329(6139):554-6.
van Essen AJ, Mulder IM, van der Vlies P, et al. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A. 2003 Apr 30;118A(3):296-8.
Chung W. Genetics of NMD. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P.17-32)
Morrison BM. Neuromuscular Diseases. Semin Neurol. 2016 Oct;36(5):409-418.
Tilton AH, Miller MD, Khoshoo V. Nutrition and swallowing in pediatric neuromuscular patients. Semin Pediatr Neurol. 1998 Jun;5(2):106-15.
Reimann J, Kornblum C. Towards Central Nervous System Involvement in Adults with Hereditary Myopathies. J Neuromuscul Dis. 2020;7(4):367-393.
Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015 Sep;138(Pt 9):2493-504.
Yiu EM, Ryan MM. Demyelinating prenatal and infantile developmental neuropathies. J Peripher Nerv Syst. 2012 Mar;17(1):32-52.
Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019 Nov 30;394(10213):2025-2038.
Mercuri E, Rutherford M, De Vile C, et al. Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 2001 Apr;11(3):297-9.
Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012 Jul;72(1):9-17.
Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35.
Godfrey C, Foley AR, Clement E, Muntoni F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev. 2011 Jun;21(3):278-85. doi: 10.1016/j.gde.2011.02.001. Epub 2011 Mar 11. PMID: 21397493.
Astrea G, Battini R, Lenzi S, et al. Learning disabilities in neuromuscular disorders: a springboard for adult life. Acta Myol. 2016 Oct;35(2):90-95.
Lutz KL, Holte L, Kliethermes SA, Stephan C, Mathews KD. Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15;81(16):1374-7.
Trevisan CP, Pastorello E, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol. 2008 Dec;15(12):1353-8.
Falsaperla R, Praticò AD, Ruggieri M, et al. Congenital muscular dystrophy: from muscle to brain. Ital J Pediatr. 2016 Aug 31;42(1):78.
Abicht A, Müller J S, Lochmüller H. Congenital Myasthenic Syndromes. 2003 May 9 [updated 2016 Jul 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
Etzel JD, Neely KA, Ely AL. Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. J AAPOS. 2019 Oct;23(5):297-300.
Andreux F, Hantaï D, Eymard B. Syndromes myasthéniques congénitaux [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]. Rev Neurol (Paris). 2004 Feb;160(2):163-76.
Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1535-70.
Liew WKM, van der Maarel S, Tawil R. Facioscapulohumeral dystrophy. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 620-630
Johnson NE. Myotonic Muscular Dystrophies. Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695.
Willig TN, Paulus J, Lacau Saint Guily J, Béon C, Navarro J. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehabil. 1994 Nov;75(11):1175-81. doi: 10.1016/0003-9993(94)90001-9. PMID: 7979925
Yiu EP, Baets J. Congenital and early infantile neuropathies. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 289-318
Brennan KM, Shy ME. Hereditary neuropathies in late childhood and adolescence. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 319-339
Monforte M, Servidei S, Ricci E, Tasca G. Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement? Can J Neurol Sci. 2017 Jul;44(4):463-464.
Malhotra HS, Juyal R, Malhotra KP, Shukla R. Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. Ann Indian Acad Neurol. 2011 Jan;14(1):47-9.
Vasanth A, Gourie-Devi M, Das S, Gayathri, Ram MY, Anisya V. Neuromuscular disorders in infancy and childhood. Neurol India. 1997 Apr-Jun;45(2):63-68. .
Mohassel P, Bönnemann CG. Limb girdle muscular dystrophies. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 635-666.
Hong JS, Ki CS, Kim JW, et al. Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. J Korean Med Sci. 2005 Apr;20(2):283-90.
Darras BT, Menache-Starobinski CC, Hinton V, Kunkel LM. Dystrophinopathies. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 551-592
van den Hout HM, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003 Aug;112(2):332-40.
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol. 2018 Jan;265(1):194-203.
Männikkö R, Wong L, Tester DJ, et al. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. Lancet. 2018 Apr 14;391(10129):1483-1492.
Baets J, Deconinck T, De Vriendt E, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain. 2011 Sep;134(Pt 9):2664-76.
Mercuri E, Finkel RS, Muntoni F, et al. SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-115.
Villar-Quiles RN, von der Hagen M, Métay C, et al. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology. 2020 Sep 15;95(11):e1512-e1527.
Karaoglu P, Quizon N, Pergande M, et al. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev. 2017 Apr;39(4):361-364.
Edem P, Karakaya M, Wirth B, Okur TD, Yiş U. Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr. 2019;61(2):275-278.
Forrest K, Mellerio JE, Robb S, et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord. 2010 Nov;20(11):709-11.
Haliloglu G, Talim B, Sel CG, Topaloglu H. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. J Inherit Metab Dis. 2015 Nov;38(6):1099-108.
Siao P, Kaku M. A Clinician's Approach to Peripheral Neuropathy. Semin Neurol. 2019 Oct;39(5):519-530.
Sansone VA. Episodic Muscle Disorders. Continuum (Minneap Minn). 2019 Dec;25(6):1696-1711.
Statland JM, Barohn RJ. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614.
Hoffmann K, Muller JS, Stricker S, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006 Aug;79(2):303-12.
Robinson KG, Viereck MJ, Margiotta MV, Gripp KW, Abdul-Rahman OA, Akins RE. Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 2013 Dec;161A(12):3042-8.
Yonekawa T, Nishino I. Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-7.
Griggs RC, Miller JP, Greenberg CR, et al. Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology. 2016 Nov 15;87(20):2123-2131.
Awerbuch GI, Nigro MA, Wishnow R. Beevor's sign and facioscapulohumeral dystrophy. Arch Neurol. 1990 Nov;47(11):1208-9.
Jackson CE. A clinical approach to muscle diseases. Semin Neurol. 2008 Apr;28(2):228-40. doi: 10.1055/s-2008-1062266. PMID: 18351524.
Wolfe GI, Baker NS, Haller RG, Burns DK, Barohn RJ. McArdle's disease presenting with asymmetric, late-onset arm weakness. Muscle Nerve. 2000 Apr;23(4):641-5.
Narayanaswami P, Weiss M, Selcen D, et al. Guideline Development Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83(16):1453-63.
van der Beek NA, de Vries JM, Hagemans ML, et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis. 2012 Nov 12;7:88.
Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84.
Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J. Hereditary Neuropathies: Update 2017. Neuropediatrics. 2017 Aug;48(4):282-293.
Birnkrant DJ, Bushby K, Bann CM, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267.
Mercuri E, Muntoni F. Congenital Muscular Dystrophies. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 538-550
Bönnemann CG, Wang CH, Quijano-Roy S, et al. Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014 Apr;24(4):289-311.
North KN, Wang CH, Clarke N, et al. International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb;24(2):97-116.
Fanin M, Duggan DJ, Mostacciuolo ML, et al. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997 Dec;34(12):973-7.
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C. Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 1997 Feb 27;336(9):618-24.
Domingos J, Sarkozy A, Scoto M, Muntoni F. Dystrophinopathies and Limb-Girdle Muscular Dystrophies. Neuropediatrics. 2017 Aug;48(4):262-272.
Alonso-Pérez J, González-Quereda L, Bello L, et al. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020 Sep 1;143(9):2696-2708.
Zhang K, Yang X, Lin G, Han Y, Li J. Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing. Clin Chim Acta. 2019 Apr;491:66-73.
Thangarajh M. The Dystrophinopathies. Continuum (Minneap Minn). 2019 Dec;25(6):1619-1639.
Thompson R, Spendiff S, Roos A, et al. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol. 2020 Jun;19(6):522-532.
Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol. 1994 Apr;51(4):387-94.
Moghadam-Kia S, Oddis CV, Aggarwal R. Approach to asymptomatic creatine kinase elevation. Cleve Clin J Med. 2016 Jan;83(1):37-42.
Silvestri NJ, Wolfe GI. Asymptomatic/pauci-symptomatic creatine kinase elevations (hyperckemia). Muscle Nerve. 2013 Jun;47(6):805-15.
Brewster LM, de Visser M. Persistent hyperCKemia: fourteen patients studied in retrospect. Acta Neurol Scand. 1988 Jan;77(1):60-3.
Galarraga B, Sinclair D, Fahie-Wilson MN, McCrae FC, Hull RG, Ledingham JM. A rare but important cause for a raised serum creatine kinase concentration: two case reports and a literature review. Rheumatology (Oxford). 2003 Jan;42(1):186-8.
Wyness SP, Hunsaker JJ, La'ulu SL, Rao LV, Roberts WL. Detection of macro-creatine kinase and macroamylase by polyethylene glycol precipitation and ultrafiltration methods. Clin Chim Acta. 2011 Nov 20;412(23-24):2052-7.
Kyriakides T, Angelini C, Schaefer J, et al. European Federation of Neurological Societies. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol. 2010 Jun 1;17(6):767-73.
Kang PB, Mercuri E. Laboratory assessment of the child with suspected neuromuscular disorders. Menkes JH, Sarnat HB, Maria BL, editors. Child Neurology. 7th edition. Lipincott. Williams&Wilkins.2326-2335.
Akman HO, Oldfors A, DiMauro S. Glycogen storage diseases of muscle. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 735-760.
Laforêt P, Vianey-Saban C. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord. 2010 Nov;20(11):693-700.
Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics. 2017 Aug;48(4):309-314.
Müller-Felber W, Vill K. Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant? Neuropediatrics. 2017 Aug;48(4):221-225.
Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33.
Pitt M. Studies of Nerves. Pitt M, editor. A manual of pediatric electromyography. 1st edition. London: Great Ormand Street Hospital for Children NHS Foundation Trust. 2014. P 7-28
Delanoe C, Sebire G, Landrieu P, Huault G, Metral S. Acute inflammatory demyelinating polyradiculopathy in children: clinical and electrodiagnostic studies. Ann Neurol. 1998 Sep;44(3):350-6.
Pitt M. Studies of muscles. Pitt M, editor. A manual of pediatric electromyography. 1st edition. London: Great Ormand Street Hospital for Children NHS Foundation Trust. 2014. P 29-42
Gertken JT, Patel AT, Boon AJ. Electromyography and anticoagulation. PM R. 2013 May;5(5 Suppl):S3-7.
Rubin DI. Needle electromyography: Basic concepts. Handb Clin Neurol. 2019;160:243-256.
Pitt M. Studies of the neuromuscular junction and investigation of ion channellopathies. Pitt M, editor. A manual of pediatric electromyography. 1st edition. London: Great Ormand Street Hospital for Children NHS Foundation Trust. 2014. P 43-58.
Dilena R, Abicht A, Sergi P, et al. Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis. J Child Neurol. 2014 Mar;29(3):389-93.
Moxley RT, Ciafaloni E, Guntrum D. Myotonis Dystrophy. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 697-718.
Echenne B, Rideau A, Roubertie A, Sébire G, Rivier F, Lemieux B. Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period. Eur J Paediatr Neurol. 2008 May;12(3):210-23.
Jurkatt-Rott K, Rüdel Reinhardt, Lehmann-Horn F. Muscle Channelopathies: myotonias and periodic paralyses. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 719-734.
Stenzel W, Schoser B. Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy. Neuropediatrics. 2017 Aug;48(4):226-232.
Thavorntanaburt S, Tanboon J, Likasitwattanakul S, et al. Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review. J Pediatr Surg. 2018 Mar;53(3):489-492.
Warren JD, Blumbergs PC, Thompson PD. Rhabdomyolysis: a review. Muscle Nerve. 2002 Mar;25(3):332-47.
Quinlivan R, Jungbluth H. Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol. 2012 Oct;54(10):886-91.
Meola G, Bugiardini E, Cardani R. Muscle biopsy. J Neurol. 2012 Apr;259(4):601-10.
Joyce NC, Oskarsson B, Jin LW. Muscle biopsy evaluation in neuromuscular disorders. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):609-31.
Exeter D, Connell DA. Skeletal muscle: functional anatomy and pathophysiology. Semin Musculoskelet Radiol. 2010 Jun;14(2):97-105.
Nix JS, Moore SA. What Every Neuropathologist Needs to Know: The Muscle Biopsy. J Neuropathol Exp Neurol. 2020 Jul 1;79(7):719-733.
Vogel H, Zamecnik J. Diagnostic immunohistology of muscle diseases. J Neuropathol Exp Neurol. 2005 Mar;64(3):181-93.
Scott W, Stevens J, Binder-Macleod SA. Human skeletal muscle fiber type classifications. Phys Ther. 2001 Nov;81(11):1810-6.
Schiaffino S, Reggiani C. Fiber types in mammalian skeletal muscles. Physiol Rev. 2011 Oct;91(4):1447-531.
Butterfield RJ. Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661.
Vincent AE, Ng YS, White K, et al. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Sci Rep. 2016 Aug 10;6:30610.
Böhm J, Yiş U, Ortaç R, et al. Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. Orphanet J Rare Dis. 2010 Dec 3;5:35.
Yiş U, Hiz S, Güneş S, et al. Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. J Neuromuscul Dis. 2019;6(3):377-384.
Özyilmaz B, Kirbiyik Ö, Özdemir TR, et al. Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies. Ann Hum Genet. 2019 Sep;83(5):331-347.
Yiş U, Seneca S, Dirik E, et al Unusual findings in Leigh syndrome caused by T8993C mutation. Eur J Paediatr Neurol. 2009 Nov;13(6):550-2.
Wilmshurst JM, Ciarlini PDSC, De Girolami U. Nerve Biopsy. Darras BT, Jones HR, Ryan MM, De vivo DC. editors. Neuromuscular disorders of infancy, childhood and adolescence, a clinician’s approach. 2nd edition.USA; 2015. P 66-81.
Nathani D, Spies J, Barnett MH, et al. Nerve biopsy: Current indications and decision tools. Muscle Nerve. 2021 Feb 25.
Wijntjes J, van Alfen N. Muscle ultrasound: Present state and future opportunities. Muscle Nerve. 2021 Apr;63(4):455-466.
Simon NG, Noto YI, Zaidman CM. Skeletal muscle imaging in neuromuscular disease. J Clin Neurosci. 2016 Nov;33:1-10.
Pillen S, van Alfen N. Skeletal muscle ultrasound. Neurol Res. 2011 Dec;33(10):1016-24.
Pillen S, Boon A, Van Alfen N. Muscle ultrasound. Handb Clin Neurol. 2016;136:843-53.
Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010 Oct;20(10):2447-60.
Mercuri E. An integrated approach to the diagnosis of muscle disorders: what is the role of muscle imaging? Dev Med Child Neurol. 2010 Aug;52(8):693.
Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010 Feb;67(2):201-8.
Warman-Chardon J, Diaz-Manera J, Tasca G, Straub V. MRI workshop study group. 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019. Neuromuscul Disord. 2020 Nov;30(11):938-947.
Warman-Chardon J, Straub V. The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease. Neuropediatrics. 2017 Aug;48(4):233-241.
Mercuri E, Talim B, Moghadaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord. 2002 Oct;12(7-8):631-8.
Bonne G, Rivier F, Hamroun D. The 2019 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2018 Dec;28(12):1031-1063.
Lee HN, Lee YM. Intagrated diagnostic approach of pediatric neuromuscular disorders. J Genet Med. 2018;15(2):55-63
Yubero D, Natera-de Benito D, Pijuan J, et al. The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. Int J Mol Sci. 2021;22(8):4274. Published 2021 Apr 20. doi:10.3390/ijms22084274
Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A. Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. Proteomics Clin Appl. 2018 Mar;12(2).
Benarroch L, Bonne G, Rivier F, Hamroun D. The 2021 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2020 Dec;30(12):1008-1048. doi: 10.1016/j.nmd.2020.11.009. Epub 2020 Nov 22. PMID: 33257164.
Cummings BB, Marshall JL, Tukiainen T, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 Apr 19;9(386):eaal5209.
Gonorazky HD, Naumenko S, Ramani AK, et al. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019 Mar 7;104(3):466-483.
Kergourlay V, Raï G, Blandin G, et al. Identification of splicing defects caused by mutations in the dysferlin gene. Hum Mutat. 2014 Dec;35(12):1532-41.
