Download PDF
Semin Respir Crit Care Med 2002; 23(3): 191-200
DOI: 10.1055/s-2002-33027
Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Overview of Neuromuscular Disorders Affecting Respiratory Function

James M. Gilchrist
  • Brown Medical School, Providence, Rhode Island, and Department of Neurology, Rhode Island Hospital, Providence, Rhode Island
Further Information

Publication History

Publication Date:
02 August 2002 (online)

    Permissions and Reprints

ABSTRACT

A great many neuromuscular disorders affect respiratory function. This article focuses on neuropathic and myopathic disorders that weaken the diaphragm and respiratory muscles. This discussion gives a general overview and attempts to update the reader on recent pathophysiological insights and developments in therapy. Among the disorders discussed, amyotrophic lateral sclerosis, poliomyelitis, postpolio syndrome, Kennedy syndrome, and spinal muscular atrophy are motor neuron diseases. Brachial plexitis and isolated unilateral or bilateral phrenic neuropathies can also weaken the diaphragm significantly. Peripheral neuropathies affecting respiration are primarily acute disorders such as Guillain-Barré syndrome, porphyria, and critical illness neuropathy, but chronic diseases such as chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease (CMT) can also cause respiratory insufficiency. Disorders of neuromuscular transmission such as Lambert-Eaton syndrome, botulism, and myasthenia gravis often affect respiration. Many muscle diseases also affect pulmonary function, including polymyositis/dermatomyositis, muscular dystrophy, hereditary channel disorders, mitochondrial encephalomyopathies, acid maltase deficiency, and congenital myopathy.

KEYWORDS

Neuropathy - myasthenia gravis - muscular dystropy - amyotrophic lateral sclerosis - myopathy

REFERENCES

  • 1 El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994 124(suppl): 63-107
    Google Scholar
  • 2 Ringel S P, Murphy J R, Alderson M K. The natural history of amyotrophic lateral sclerosis.  Neurology . 1993;  43 1316-1322
    PubMedGoogle Scholar
  • 3 Stambler N, Charatan M, Cedarbaum J M, ALS CNTF Treatment Study Group. Prognostic indicators of survival in ALS.  Neurology . 1998;  50 66-72
    PubMedGoogle Scholar
  • 4 Lyall R A, Donaldson N, Polkey M I, Leigh P N, Moxham J. Respiratory muscle strength and ventilatory failure in amyotrophic lateral sclerosis.  Brain . 2001;  124 2000-2013
    CrossrefPubMedGoogle Scholar
  • 5 Cazzoli P A, Oppenheimer E A. Home mechanical ventilation for amyotrophic lateral sclerosis: nasal compared to tracheostomy-intermittent positive pressure ventilation.  J Neurol Sci . 1996;  139(suppl) 123-128
    CrossrefPubMedGoogle Scholar
  • 6 Kleopa K A, Sherman M, Neal B, Romano G J, Heiman-Patterson T. Bipap improves survival and rate of pulmonary function decline in patients with ALS.  J Neurol Sci . 1999;  64 82-88
    PubMedGoogle Scholar
  • 7 Brown R H. Superoxide dismutase and familial amyotrophic lateral sclerosis: new insights into mechanisms and treatments.  Ann Neurol . 1996;  39 145-146
    CrossrefPubMedGoogle Scholar
  • 8 Yang Y, Hentati A, Deng H-X. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.  Nature Genetics . 2001;  29 160-165
    CrossrefPubMedGoogle Scholar
  • 9 Hanano S, Hand C K, Osuga H. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.  Nature Genetics . 2001;  29 166-173
    CrossrefPubMedGoogle Scholar
  • 10 Lacomblez L, Bensimon G, Leigh P N. Dose ranging study of riluzole in amyotrophic lateral sclerosis.  Lancet . 1996;  347 1425-1431
    CrossrefPubMedGoogle Scholar
  • 11 Mulder D W. Clinical observations on acute poliomyelitis.  Ann NY Acad Sci . 1995;  753 1-10
    PubMedGoogle Scholar
  • 12 Dalakas M C. The postpolio syndrome as an evolved clinical entity: definition and clinical description.  Ann NY Acad Sci . 1995;  753 68-80
    CrossrefPubMedGoogle Scholar
  • 13 Sendter M. Molecular mechanisms in spinal muscular atrophy: models and perspectives.  Curr Opin Neurol . 2001;  14 629-634
    CrossrefPubMedGoogle Scholar
  • 14 Thomas N H, Duboqitz V. The natural history of type 1 (severe) spinal muscular atrophy.  Neuromusc Disord . 1994;  4 497-502
    PubMedGoogle Scholar
  • 15 Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanova-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients.  J Neurol Sci . 1997;  146 67-72
    CrossrefPubMedGoogle Scholar
  • 16 Russman B S, Buncher C R, White M. Function changes in spinal muscular atrophy II and III.  Neurology . 1996;  47 973-977
    PubMedGoogle Scholar
  • 17 LaSpada A R, Wilson E M, Lubahn D B. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.  Nature . 1991;  352 77-79
    CrossrefPubMedGoogle Scholar
  • 18 Mariotti C, Castellotti B, Pareyson D. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.  Neuromuscul Disord . 2000;  10 391-397
    PubMedGoogle Scholar
  • 19 Wilbourn A. Plexopathies. In: Mendell JR, Kissel JT, Cornblath DR, eds. Diagnosis and Management of Peripheral Nerve Disorders New York: Oxford University Press 2001 : 660-663
    Google Scholar
  • 20 Pelligrino J E, George R A, Biegel J. Hereditary neuralgic amotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.  Nature Genetics . 1997;  101 277-283
    PubMedGoogle Scholar
  • 21 Nardone R, Bernhart H, Pozzera A, Taddei M, Tezzon F. Respiratory weakness in neuralgic amyotrophy: report of two cases with phrenic nerve involvement.  Neurol Sci . 2000;  21 177-181
    CrossrefPubMedGoogle Scholar
  • 22 Stewart J D. Focal Peripheral Neuropathies. 3rd ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2000
    Google Scholar
  • 23 Boonyapisit K, Katirji B. Multifocal motor neuropathy presenting with respiratory failure.  Muscle Nerve . 2000;  23 1887-1890
    PubMedGoogle Scholar
  • 24 Ropper A H, Widjicks E FM, Truax B T. Guillain-Barré Syndrome.  Philadelphia: FA Davis 1991: 22
    Google Scholar
  • 25 McKhann G M, Griffin J W, Cornblath D R. Plasmapheresis and Guillain-Barré syndrome: analysis of prognostic factos and the effect of plasmapheresis.  Ann Neurol . 1988;  23 347-353
    CrossrefPubMedGoogle Scholar
  • 26 Hartung H-P, Pollard J D, Harvey G K, Toyka K V. Immunopathogenesis and treatment of Guillain-Barré syndrome, II.  Muscle Nerve . 1995;  18 154-164
    PubMedGoogle Scholar
  • 27 Griffin J W, Li C Y, Ho T W. Pathology of the motor-sensory axonal Guillain-Barré syndrome.  Ann Neurol . 1996;  39 17-28
    CrossrefPubMedGoogle Scholar
  • 28 Guillain-Barré Study Group. Plasmapheresis and acute Guillain-Barré syndrome.  Neurology . 1985;  35 1096-1104
    PubMedGoogle Scholar
  • 29 Van DerMeche G A F, Schmitz P IM, Dutch Guillain-Barré Study Group. A randomized trial comparing intravenous immune globulin and plasma exchange in Guillain-Barré syndrome.  N Engl J Med . 1992;  326 1123-1133
    PubMedGoogle Scholar
  • 30 Guillain-Barré Syndrome Steroid Trial Group. Double-blind trial of intravenous methylprednisone in Guillain-Barré syndrome.  Lancet . 1993;  341 586-590
    PubMedGoogle Scholar
  • 31 Albers J W. Porphyric neuropathy. In: Mendell JR, Kissel JT, Cornblath DR, eds. Diagnosis and Management of Peripheral Nerve Disorders New York: Oxford University Press; 2000: 344-366
    Google Scholar
  • 32 Lacomis D, Petrella J T, Giuliani M J. Causes of neuromuscular weakness in the intensive-care unit: a study of ninety-two patients.  Muscle Nerve . 1998;  21 610-617
    PubMedGoogle Scholar
  • 33 Yan W X, Archelos J J, Hartung H-P, Pollard J D. P0 protein is a target antigen in chronic inflammatory demyelinating polyradiculoneuropathy.  Ann Neurol . 2001;  50 286-292
    CrossrefPubMedGoogle Scholar
  • 34 Gabriel C M, Gregson N A, Hughes R AC. Anti-PMP22 antibodies in patients with inflammatory neuropathy.  J Neuroimmunol . 2000;  104 139-146
    CrossrefPubMedGoogle Scholar
  • 35 Hughes R, Bensa S, Willison H. Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy.  Ann Neurol . 2001;  50 195-201
    CrossrefPubMedGoogle Scholar
  • 36 Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis.  Muscle Nerve . 1999;  22 1498-1509
    PubMedGoogle Scholar
  • 37 Dyck P J, Litchy W J, Minnerath S. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis.  Ann Neurol . 1994;  35 608-615
    CrossrefPubMedGoogle Scholar
  • 38 Lennon V A, Kryzer T J, Griesmann G E. Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes.  N Engl J Med . 1995;  332 1467-1471
    CrossrefPubMedGoogle Scholar
  • 39 Gutmann L, Phillips L H, Gutmann L H. Trends in the association of Lambert-Eaton myasthenic syndrome with carcinoma.  Neurology . 1992;  42 848-850
    PubMedGoogle Scholar
  • 40 Sanders D B, Massey J M, Sanders L L, Edwards L J. A randomized trial of 3,4-diaminopyridine in Lambert-Eaton myasthenic syndrome.  Neurology . 2000;  54 603-607
    CrossrefPubMedGoogle Scholar
  • 41 Sonnabend O A, Sonnabend W F, Krech U, Molz G, Sigrist T. Continuous microbiological and pathological study of 70 sudden and unexpected infant deaths: toxigenic intestinal clostridium botulinum infection in 9 cases of sudden infant death syndrome.  Lancet . 1985;  1 237-241
    PubMedGoogle Scholar
  • 42 Lindstrom J M, Seybold M E, Lennon V A, Whittingham S, Duane D D. Antibody to acetylcholine receptor in myasthenia gravis: prevalence, clinical correlates, and diagnostic value.  Neurology . 1976;  26 1054-1059
    CrossrefPubMedGoogle Scholar
  • 43 Thomas C, Mayer S, Gungor Y. Myasthenic crisis: clinical features, mortality, complications and risk factors for prolonged intubation.  Neurology . 1997;  48 1253-1260
    CrossrefPubMedGoogle Scholar
  • 44 Tan F C, Tim R W, Gilchrist J M, AAEM Quality Assurance Committee. Literature review of the usefulness of repetitive nerve stimulation and single fiber EMG in the electrodiagnostic evaluation of patients with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome.  Muscle Nerve . 2001;  24 1239-1247
    PubMedGoogle Scholar
  • 45 Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies.  Nature Medicine . 2001;  7 365-368
    CrossrefPubMedGoogle Scholar
  • 46 Seybold M E. Treatment of myasthenia gravis. In: Engel AG, ed. Myasthenia Gravis and Myasthenic Disorders New York: Oxford University Press 1999: 167-201
    Google Scholar
  • 47 Ciafaloni E, Massey J M, Tucker-Lipscomb B, Sanders D B. Mycophenolate mofetil for myasthenia gravis: an open-label pilot study.  Neurology . 2001;  56 97-99
    CrossrefPubMedGoogle Scholar
  • 48 Sigurgeirsson B, Lindelof B, Edhag O, Allander E. Risk of cancer in patients with dermatomyositis or polymyositis: a population-based study.  N Engl J Med . 1992;  326 363-367
    CrossrefPubMedGoogle Scholar
  • 49 Dalakas M C. Immunopathogenesis of inflammatory myopathies.  Ann Neurol . 1995;  37(suppl) S74-86
    PubMedGoogle Scholar
  • 50 Hochberg M C, Feldman D, Stevens M B. Adult onset polymyositis/dermatomyositis: an analysis of clinical and laboratory features and survival in 76 patients with a reviews of the literature.  Semin Arthritis Rheum . 1986;  15 168
    CrossrefPubMedGoogle Scholar
  • 51 Hochberg M C, Feldman D, Stevens M D. Antibody to Jo-1 in polymyositis/dermatomyositis: association with interstitial pulmonary disease.  J Rheumatol . 1984;  11 663
    PubMedGoogle Scholar
  • 52 Dalakas M C, Illa I, Dambrosia J M. A controlled trial of high-dose intravenous immune globulin infusions as treatment of dermatomyositis.  N Engl J Med . 1993;  329 1993-2000
    CrossrefPubMedGoogle Scholar
  • 53 London S F, Gross K F, Ringel S P. Cholesterol-lowering agent myopathy (CLAM).  Neurology . 1991;  41 1159-1160
    PubMedGoogle Scholar
  • 54 Urbano-Marquez A, Estruch R, Navarro-Lopez F. The effects of alcoholism in skeletal and cardiac muscle.  N Engl J Med . 1989;  320 409
    CrossrefPubMedGoogle Scholar
  • 55 Cohn R D, Campbell K P. Molecular basis of muscular dystrophies.  Muscle Nerve . 2000;  23 1456-1471
    PubMedGoogle Scholar
  • 56 Barkhaus P E, Gilchrist J M. Manifesting carriers of Duchenne muscular dystrophy.  Arch Neurol . 1989;  46 673-675
    PubMedGoogle Scholar
  • 57 Den Duneen T J, Grootscholten P M, Bakker E. Topopgraphy of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.  Am J Hum Genet . 1989;  45 835-847
    PubMedGoogle Scholar
  • 58 Monaco A P, Bertelson C J, Liechti-Gallati S. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.  Genomics . 1988;  2 90
    CrossrefPubMedGoogle Scholar
  • 59 Grain L, Crotina-Boria M, Forfar C, Hilton-Jones D, Hopkin J, Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls.  Neuromuscul Disord . 2001;  11 186-191
    CrossrefPubMedGoogle Scholar
  • 60 Fenichel G M, Mendell J R, Moxley R T. A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy.  Arch Neurol . 1991;  48 575-579
    PubMedGoogle Scholar
  • 61 Meola G. Clinical and genetic heterogeneity in myotonic dystrophies.  Muscle Nerve . 2000;  23 1789-1799
    PubMedGoogle Scholar
  • 62 Monckton D F, Wong L J, Ashizawa T, Caskey C T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR.  Hum Mol Genet . 1995;  4 1-8
    PubMedGoogle Scholar
  • 63 Fisher J, Upadhaya M. Molecular genetics of facioscapulohumeral muscular dystrophy (FSH).  Neuromuscul Disord . 1997;  7 55-62
    PubMedGoogle Scholar
  • 64 Lehmann-Horn F, Rudel R. Hereditary nondystrophic myotonias and periodic paralyses.  Curr Opin Neurol . 1995;  8 402-410
    PubMedGoogle Scholar
  • 65 Martin R J, Sufit R L, Ringle S P, Hudgel D W, Hill P L. Respiratory improvement by muscle training in adult-onset acid maltase deficiency.  Muscle Nerve . 1983;  6 201-203
    PubMedGoogle Scholar
  • 66 Morgan-Hughes J A. The mitochondrial myopathies. In: Engle AD, Franzini-Armstrong C, eds. Myology 2nd ed. New York: McGraw-Hll 1994: 1610-1660
    Google Scholar
  • 67 Giles R E, Blanc H, Cann H M, Wallace D C. Maternal inheritance of human mitochonrial DNA.  Proc Natl Acad Sci USA . 1980;  77 6715
    PubMedGoogle Scholar
  • 68 Hirano M, Nishino I, DiMauro S. Mitochondrial myopathies. In: Pourmand R, ed. Neuromuscular Diseases Boston: Butterworth-Heinemann; 2001: 411-438
    Google Scholar
  • 69 Bodensteiner J B, Riggs J E, Schocet S S. Congenital myopathies. In: Pourmand R, ed. Neuromuscular Diseases Boston: Butterworth-Heinemann; 2001: 295-311
    Google Scholar