Erişkinlerde Erken Dönemde veya Selektif Olarak Solunum Yetmezliğine Neden Olan Nöromusküler Hastalıklar

Yıl 2007, Cilt: 16 Sayı: 4, 245 - 282, 01.12.2007

Filiz Koç

Öz

Özet bulunmuyor

Anahtar Kelimeler

nöromüsküler hastalıklar, nöroloji

Adult Neuromuscular Diseases Selectively Causing Respiratory Insufficiency

Öz

No abstract available

Anahtar Kelimeler

neuromuscular diseases, neurology, respiratory arrest

Kaynakça

• De Die-Smulders CEM, Höweler CJ, Thijs C, et al. Age and causes of death in adult onset myotonic dystrophy. Brain 1998;121:1557-1563.
• Koç F, Sarıca Y. Mitokondriyal Hastalıklar. Çukurova Üniversitesi Tıp Fakültesi Arşiv Dergisi, 2003; 12:32-79.
• DiMauro S, Bonilla E, Zeviani M, et al. Mitochondrial myopathies. Ann Neurol 1985; 17: 521- 38.
• Cros D, Palliyath S, DiMauro S, et al. Respiratory Failure Revealing Mitochondrial Myopathy in Adults. Chest 1992; 101:824-28.
• D Cros, S Palliyath, S DiMauro, et al. Respiratory failure revealing mitochondrial myopathy in adults. Chest. 1992;101; 824-828.
• Carroll JE, Zwillich C, Weil JV, et al. Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology 1976; 26: 140-46.
• Pavlakis SG, Phillips PC, DiMauro 5, et al.. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: adistinctive clinical syndrome. Ann Neurol 1984; 16: 481- 88.
• Zeviani M, Bonilla E, DeVivo DC, et al.. Mitochondrial diseases. Neurol Clinics 1989; 7:123- 56.
• Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
• Masó E, Ferrer I, Herraiz J, et al. syndrome in an adult. J Neurol. 1984; 231:253-7.
• Cummiskey J, Guilleminault C, Davis R, et al. Automatic respiratory failure: sleep studies and Leigh's disease (case report). Neurology. 1987; 37:1876-8.
• Arii J, Tanabe Y. Leigh syndrome: Serial MR imaging and clinical follow-up. Am J Neuroradiol 2000; 21:1502-9
• Rahman S, Blok RB, Dahl HH, et al.. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-51.
• Behrman RE.: Nelson Textbook of Pediatrics. 16th ed. WB Saunders Co; 2000: 411-13.
• Ausems MG, Lochman P, van Diggelen OP, et al. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999;52: 851-53.
• Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7: 713-16.
• Melvin JJ. Pompe's disease. Arch Neurol 2000; 57: 134-5.
• Chen YT, Amalfitano A. Towards a molecular therapy for glycogen storage disease type II (Pompe disease). Mol Med Today 2000;6:245-251.
• Koç F, Zorludemir S, Sarıca Y. Adult başlangıçlı asit maltaz eksikliği. Gülhane Tıp Dergisi. 2003; 45: 277-280.
• Barnes D, Hughes RA, Spencer GT. Adult onset acid maltase deficiency with prominent bulbar involvement and ptosis. J R Soc Med. 1993; 86: 50.
• Margolis ML, Howlett P, Goldberg R, et al. Obstructive sleep apnea syndrome in acid maltase deficiency. Chest 1994; 105: 947-9. Conen PE, Murphy EG, Donohue WL. Light and electron microscopic studies of “myogranules” in a child with hypotonia and muscle weakness. Can Med Assoc J. 1963; 89: 983-6.
• Shy GM, Engel WK, Somers JE, et al. Nemaline myopathy: a new congenital myopathy.
• Brain. 1963; 86: 793-810.
• Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy a disease of skeletal muscle thin filaments. Trends Mol Med. 2001; 7: 362-68.
• Lomen-Hoerth C, Simmons ML, Dearmond SJ, et al. Adult-onset nemaline myopathy: another cause of dropped head. Muscle & Nerve. 1999; 22: 1146- 50.
• Agrawal PB, Strickland CD, Midgett C, et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004; 56: 86-96.
• Keller CE, Hays AP, Rowland LP Moghadaszadeh B, et al.-Onset Nemaline Myopathy and Monoclonal Gammopathy. Arch Neurol. 2006; 63: 132-134.
• Chinnery PF, Johnson MA, Walls TJ, et al. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol. 2001;49: 443-52.
• Birchall D, von der Hagen M, Bates D, et al. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscular Disord. 2005;15: 595-600.
• Edstrom L, Thornell LE, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. Journal of Neurol. Sci. 1990; 96: 211-28.
• Nicolao P, Xiang F, Gunnarsson LG, et al. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am. J. Hum. Genet. 1999; 64: 788-792.
• Xiang F, Nicolao P, Chapon F,et al. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. Neuromuscular Disord. 1999; 9: 308- 12.
• MacFarlane IA, Rosenthal FD. Severe myopathy after status asthmaticus. Lancet. 1977; 2: 615.
• Lacomis D, Zochodne DW, Bird SJ. Critical illness myopathy. Muscle & Nerve. 2000 ;23: 1785-8.
• Latronico N, Peli E, Botteri M. Critical illness myopathy and neuropathy. Curr Opin Crit Care. 2005;11: 126-32.
• Bednarik J, Lukas Z, Vondracek P. Critical illness polyneuromyopathy: the electrophysiological components of a complex entity. Intensive Care Med 2003; 29: 1505- 1514.
• Trojaborg W, Weimer LH, Hays AP. Electrophysiologic studies in critical illness associated weakness: myopathy or neuropathy--a reappraisal. Clin Neurophysiol.2001;112: 1586-93.
• Young GB, Hammond RR. A stronger approach to weakness in the intensive care unit. Critical care 2004; 8: 416-18.
• Stibler H, Edstrom L, Ahlbeck K, et al. Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy. Intensive Care Med. 2003; 29:1515-27.
• Latronico N, Shehu I, Seghelini E. Neuromuscular sequelae of critical illness. Curr Opin Crit Care 2005; 11: 381-90.
• Schwartz M. The lung in polymyositis. Clin Chest Med 1998;19: 701-12.
• Douglas WW, Tazelaar HD, Hartman TE, et al. Polymyositis-dermatomyositis-associated interstitial lung disease. Am J Respir Crit Care Med. 2001;164: 1182-5.
• Rossman MD, Thompson B, Frederick M, et al. ACCESS Group: HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites. Am. J Hum. Genet. 2003;73: 720- 35.
• Takuma H, Murayama S, Watanabe M, eet al. A severe case of subacute sarcoid myositis. J Neurol Sci. 2000;15;175:140-4.
• Yee AM, Pochapin MB. Treatment of complicated sarcoidosis with infliximab anti-tumor necrosis factor-alpha therapy. Ann Intern Med. 2001;135: 27-31.
• Sanders DB, Howard JF. Disorders of neuromuscular transmission. In:Bradley WG, Daroff RB, Fenichel GM, Mariden CD eds, Neurology in clinical practice. Buttreworth-Heinmann, 2000: 2167-181.
• http://www.millipediatri.org.tr/bildiriler/PP-126.htm
• Deymeer F. Nöromüsküler kavşlak hastalıkları. In: Oğul O, ed. Nöroloji. Bursa, Nobel tıp
• kitabevi 2000: 373-379.
• Ursavaş A, Karlı N, Karadağ M, ve ark.. Myastenik kriz nedeniyle akut solunum yetmezliği
• gelişen bir hastada noninvaziv mekanik ventilasyon. Solunum 2004; 6:118-124. Bedlack RS, Sanders DB. How to handle myasthenic crisis. Myastenik krizde noninvazif mekanik ventilasyon. Postgrad Med 2000;107:211-222.
• Thomas CE, Mayer SA, Gungor Y, ve ark. Myasthenic crisis: clinical features, mortality,
• complications and risk factors for prolonged intubation. Neurology 1997;48: 1253-60.
• Ferguson IT, Murphy RP, Lascelles RG. Ventilatory failure in myasthenia gravis. J Neurol
• Neurosurg Psychiat 1982;45: 217-222.
• Provencio JJ, Bleck TP, Connors AF. Critical care neurology. Am J Respir Crit Care Med 2001;164:341-45.
• Nicolle MW, Stewart DJ, Remtulla H, et al.-Eaton myasthenic syndrome presenting with severe respiratory failure. Muscle & Nerve. 1996;19:1328-33.
• Barr CW, Claussen G, Thomas D,et al. Primary respiratory failure as the presenting symptom in Lambert-Eaton myasthenic syndrome. Muscle & Nerve. 1993;16:712-5.
• Tseng A, Claussen G, Shin J. Respiratory Failure in Lambert-Eaton Myasthenic Syndrome Precipitated by Calcium-Channel Blockers: Report of a Case and Literature Review. Journal of Clinical Neuromuscular Disease 2002;4:60-63.
• Gordon AS, John W. Acute ventilatory failure in Lambert-Eaton myasthenic syndrome and its response to 3,4-diaminopyridine. Neurology 1996;46:1143-1145.
• Van der Meche FG, Visser LH, Jacobs BC, et al. Guillain-Barre syndrome :multi- factorial mechanisms versus defined subgroups. J Infect Dis 1997;176 Suppl 2: 99-102.
• Ho T, Griffin J. Guillain-Barre syndrome. Curr Opin Neurol 1999;12: 389-94.
• Hahn AF. Guillain-Barre syndrome. Lancet 1998; 352: 635-41.
• Saida K. The immunopathology of Guillain-Barre syndrome. Curr Opin Neurol 1996; 9: 329- 333.
• Asbury AK, Cornblath DR. Assessment of current diagnostic criteria for Guillain Barré syndrome. Ann Neurol 1990; 27: 21-24.
• Hund EF, Borel CO, Cornblath DR, et al. Intensive management and treatment of severe Guillain-Barre syndrome. Crit Care Med 1993;21: 433-46.
• Maher J, Rutledge F, Remtulla H, et al. Neuromuscular disorders associated with failure to wean from the ventilator. Intensive Care Med 1995;21:737-43.
• Austin JH. Recurrent polyneuropathies and their corticosteroid treatment. Brain 1958;81:157- 192.
• Dyck PJ, Lais AJ, Ohta M, et al. Chronic inflammatory polyradiculopathy. Mayo Clin Proc 1975; 50:621-37.
• Ad Hoc Subcommittee of the American Academy of Neurology AIDS Task Force: Research criteria for the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Neurology 1991; 41: 617-618.
• Barohn RJ, Kissel JT, Warmolts JR, Mendell JR. Chronic inflammatory demyelinating polyradiculoneuropathy: clinical characteristics, course, and recommendations for diagnostic criteria. Arch Neurol 1989;46: 878-84.
• Cornblatt DR, Griffin DE, Welch D, et al. Quantitative analysis of endoneurial T-cells in human sural nerve biopsies. J Neuroimmunol 1990;26:113-118.
• Dyck PJ, Lais AJ, Ohta M, et al. Chronic inflammatory polyradiculopathy. Mayo Clin Proc 1975;50: 621-37.
• Costa J, de Carvalho M. Chronic inflammatory demyelinating polyneuropathy, phrenic nerve and respiratory symptoms. Eur J Neurol. 2005;12:64-6.
• Henderson RD, Sandroni P, Wijdicks EF. Chronic inflammatory demyelinating polyneuropathy and respiratory failure. J Neurol. 2005;252:1235-7.
• Kimber TE, Orrell RW, King RH, et al. Pathological findings in a patient with ventilatory failure and chronic inflammatory demyelinating polyneuropathy. Journal of the Peripheral Nervous System. 2003; 8:13-16.
• Sasaki M, Ohara S, Oide T, et al. An autopsy case of chronic inflammatory demyelinating polyradiculoneuropathy with respiratory failure. Muscle & Nerve. 2004; 30: 382-7.
• Cocito D, Ciaramitaro P, Rota E, et al. Subclinical electrophysiological alterations of phrenic nerve in chronic inflammatory demyelinating polyneuropathy. J Neurol. 2005; 252: 916-20.
• Ouvrier RA, Nicholson GA. Advances in the genetics of hereditary hypertrofic neuropathy in chilhood. Brain Dev 1995; 17 suppl: 31-38.
• Lupski JR, Chance PF, Garcia CA. İnherited primary peripheral neuropathies. JAMA 1993; 270: 2326-30.
• Davide Pareyson, MD. Charcot-Marie-Tooth Disease and Releated Neuropathies: Molecular basis for distinctions and diagnosis. Muscle & Nerve 1999;22: 1498-1509.
• Darquennes K, De Jonghe P, Daems D, et al. Intermittent positive airway pressure by nasal mask as a treatment for respiratory insufficiency in a patient with Charcot-Marie-Tooth disease. Acta Clin Belg. 2006;61:176-81.
• Teramoto S, Ishii T, Matsuse T. Central sleep apnoeas in patients with Charcot-Marie-Tooth disease. Lancet. 2001 Jan 27;357:267-72.
• Dematteis M, Pépin JL, Jeanmart M, et al. Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet. 2001;358: 70-1.
• Osanai S, Akiba Y, Nakano H, et al. Charcot-Marie-Tooth disease with diaphragmatic weakness. Intern Med. 1992; 31:1267-70.
• Chan CK, Mohsenin V, Loke J, et al. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest. 1987; 91: 567-70. Liedholm LJ, Eeg-Olofsson O, Ekenberg BE, et al., Acute postasthmatic amyotrophy (Hopkins' syndrome). Muscle Nerve. 1994;17: 769-72.
• Kyllerman MG, et al. PCR diagnosis of primary herpesvirus type I in poliomyelitis-like paralysis and respiratory tract disease. Pediatr Neurol. 1993; 9:227-9.
• Acharya AB, Lakhani PK. Hopkins syndrome associated with Mycoplasma infection. Pediatr Neurol. 1997; 16: 54-5. Arita J, Nakae Y, Matsushima H, Maekawa K. Hopkins syndrome: T2-weighted high intensity of anterior horn on spinal MR imaging. Pediatr Neurol. 1995;13: 263-5.
• www.asicalismagrubu.org/
• Sabatelli M, Quaranta L, Madia F, et al. Peripheral neuropathy with hypomyelinating features
• in adult-onset Krabbe's disease. Neuromuscular Disord. 2002; 12: 386-91.
• Polkey MI, Lyall RA, Green M, et al. Expiratory muscle function in amyotrophic lateral sclerosis. Am J Respir Crit Care Med 1998;158: 734–41.
• Chaudri MB, Liu C, Hubbard R, et al. Relationship between supramaximal flow during cough and mortality in motor neurone disease Eur Respir J. 2002; 19: 434-8.
• Hillel AD, Miller R. Bulbar amyotrophic lateral sclerosis: patterns of progression and clinical management. Head & Neck 1989;11:51–59.
• Murty GE, Lancaster P, Kelly PJ. Cough intensity in patients with a vocal cord palsy. Clin Otolaryng 1991;16: 248–251.
• Jackson CE, Rosenfeld J, Moore DH, et al. A preliminary evaluation of a prospective study of pulmonary function studies and symptoms of hypoventilation in ALS/MND patients. Journal of the Neurological Sciences 2001; 191; 75-78.
• Lechtzin N, Rothstein J, Clawson L, et al. Amyotrophic lateral sclerosis: Evaluation and treatment of respiratory impairment. ALS and Other Motor Neuron Disorders 2002; 3:5-13.
• Varrato DO, Siderowf A, Damiano P, et al. Postural change of forced vital capacity predicts some respiratory symptoms in ALS. Neurology 2001; 57: 357-359.
• www.cignamedicare.com/dmerc/dlog/dlog2004/winter_2004.
• Kleopa KA, Sherman M, Neal B, et al.. Bipap improves survival and rate of pulmonary function decline in patients with ALS. Journal of the Neurological Sciences 1999; 164: 82-88.
• Bach JR. Amyotrophic lateral sclerosis: Prolongation of life by noninvasive respiratory aids. Chest 2002; 722: 92-98.
• Sivak ED, Shefner JM, Mitsumoto H, et al. The use of non- invasive positive pressure ventilation (NIPPV) in ALS patients. A need for improved determination of intervention timing. ALS and Other Motor Neuron Disorders 2001; 2: 139- 145.
• Agre JC, Rodriquez AA, Tafel JA. Late effects of polio: critical review of the literature on neuromuscular function. Arch Phys Med Rehabil 1991;72: 923-31.
• On Yağız A. Geç Dönem Poliomiyelitte Sınıflama, Klinik Özellikler ve Yaşam Kalitesi. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi 2001;47. (www.ftrdergisi. com)
• Dalaks MC. How to design a therapeutic study in patients with post-polio syndrome. Methodological concerns and status of present therapies. Ann NY Acad Sci 1995; 753: 314- 20.
• Halstead LS, Rossi CD. New problems in old polio patients: result of survey of 539 polio survivors. Orthopedics 1985; 8: 845-50.
• McComas AJ, Quartly C, Griggs C. Early and late losses of motor units after poliomyelitis. Brain 1997;120:1415- 21.
• Dalakas MC. Pathogenetic mechanisms of post-polio syndrome: morphological, electrophysiological, virological and immunological correlations. (Review). Ann NY Acad Sci 1995; 753:167-185.
• Eirnasson G, Grimby G, Stalberg E. Electromyographic and morphological functional compensation in late poliomyelitis. Muscle Nerve 1990;13:165-171.
• Cosgrove JL, Alexander MA, Kitts EL, et al. Late effects of poliomyelitis. Arch Phys Med Rehabil 1987; 68:47.
• Willen C, Grimby G. Pain, Physical activity and disability in individuals with late effects of polio. Arch Phys Med Rehabil 1998;79: 915-919.