Les maladies neuromusculaires : diagnostic et suivi à l’âge adulte

Mise Au Point / Update
  • 89 Downloads

Résumé

Les maladies neuromusculaires (MNM) représentent un groupe hétérogène de pathologies génétiques ou acquises touchant le nerf périphérique, le muscle ou la jonction neuromusculaire. Les niveaux de difficultés diagnostiques et de sévérités cliniques et pronostiques sont très variables d’une pathologie à l’autre. Cette mise au point traitera dans une première partie des modalités diagnostiques de ces pathologies et dans un second temps abordera les spécificités du suivi à l’âge adulte.

Mots clés

Diagnostic Suivi Neuropathie Myopathie Myasthénie 

Neuromuscular diseases: diagnosis and follow-up in adulthood

Abstract

Neuromuscular disorders are a heterogeneous group of acquired or inherited diseases involving the peripheral nerve, the muscle or the neuromuscular junction. These disorders include a wide spectrum of diagnostic difficulties, clinical severities and outcomes. This review will focus on modalities and pitfalls of the diagnostic process. It will also describe the hallmarks of the follow-up in adulthood.

Keywords

Diagnosis Follow-up Neuropathy Myopathy Myasthenia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Références

  1. 1.
    Emery A (1991) Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1:19–29PubMedCrossRefGoogle Scholar
  2. 2.
    Aartsma-Rus A, Van Ommen G (2010) Progress in therapeutic antisens applications for neuromuscular disorders. Eur J Hum Gen 18:146–153CrossRefGoogle Scholar
  3. 3.
    Merlini L, Stagni SB, Marri E, Granata C (1992) Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy. Neuromuscul Disord 2:197–200PubMedCrossRefGoogle Scholar
  4. 4.
    Pareyson D, Marchesi C (2009) Diagnostic, natural history and management of Charcot-Marie-Tooth disease. Lancet Neurol 8:654–667PubMedCrossRefGoogle Scholar
  5. 5.
    Amato A, Russell J (2008) Muscular dystrophies. In: Amato A, Russell J (eds) Neuromuscular disorders. McGraw-Hill medical, pp 529–576Google Scholar
  6. 6.
    Amato A, Russell J (2008) Myotonic dystrophies. In: Amato A, Russell J (eds) Neuromuscular disorders. McGraw-Hill medical, pp 647–654Google Scholar
  7. 7.
    Amato A, Russell J (2008) Guillain-Barré syndrome and related disorders. In: Amato A, Russell J (eds) Neuromuscular disorders. McGraw-Hill medical, pp 213–232Google Scholar
  8. 8.
    Amato A, Russell J (2008) Inflammatory myoapthies. In: Amato A, Russell J (eds) Neuromuscular disorders. McGraw-Hill medical, pp 681–720Google Scholar
  9. 9.
    Amato A, Russell J (2008) Approach to patients with neuromuscular disease. In: Amato A, Russell J (eds) Neuromuscular disorders. McGraw-Hill medical, pp 3–16Google Scholar
  10. 10.
    Venance S, Tawil R (2011) Neuromuscular diseases: approach to clinical diagnosis. In: Neuromuscular disorders. John Wiley and Sons, pp 1–5Google Scholar
  11. 11.
    Dimitri D, Eymard B (2012) Myopathies inflammatoires, myopathies nécrosantes auto-immunes, myopathies génétiques de l’adulte: frontières diagnostiques. Rev Med Int 33:134–142CrossRefGoogle Scholar
  12. 12.
    Lynch SL, Boon AJ, Smith J, et al (2008) Complications of needle electromyography: hematoma risk and correlation with anticoagulation and antiplatelet therapy. Muscle Nerve 38:1225–1230PubMedCrossRefGoogle Scholar
  13. 13.
    Pouget J (2002) Attitude diagnostique et conduite des examens complémentaires devant un taux élevé de créatine-kinases sériques. La lettre du neurologue, Hors série, pp 8–11Google Scholar
  14. 14.
    May DA, Disler DG, Jones EA, et al (2000) Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls and pitfalls. Radiographics 20(Spec n):S295–S315PubMedGoogle Scholar
  15. 15.
    Degardin A, Morillon D, Lacour A, et al (2010) Morphologic imaging in muscular dystrophies and inflammatory myopathies. Skeletal Radiol 39:1219–1227PubMedCrossRefGoogle Scholar
  16. 16.
    Prise en charge diagnostique des neuropathies périphériques (2007) Haute Autorité de santé, service des recommandations médicalesGoogle Scholar
  17. 17.
    Van der Ploeg A, Clemens P, Corzo D, et al (2010) A randomized study of alglucosidase alpha in late onset Pompe’s disease. NEJM 362:1396–13406PubMedCrossRefGoogle Scholar
  18. 18.
    Engel A (2012) Current status of the congenital myasthenic syndromes. Neuromuscul Disord 22:99–111PubMedCrossRefGoogle Scholar
  19. 19.
    Ben Ammar A, Petit F, Alexandri N, et al (2010) Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 257:754–766PubMedCrossRefGoogle Scholar
  20. 20.
    Vasli N, Böhm J, Le Gras S, Muller J (2012) Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 124:273–283PubMedCrossRefGoogle Scholar
  21. 21.
    Hicks D, Sarkozy A, Muelas N, et al (2011) A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy Brain 134:171–182PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag France 2012

Authors and Affiliations

  1. 1.Centre de référence des maladies rares neuromusculaires et Clinique neurologique, hôpital Roger-SalengroCHRU de LilleLille cedexFrance

Personalised recommendations