Fréquence et profil évolutif des principales maladies neuromusculaires

Diagnosing neuromuscular disease is difficult. These diagnoses are often delayed because of the clinician's ignorance. There are a lot of myopathy classified according to their histological description. Their symptoms can be purely respiratory or purely musculoskeletal. Clinical exam is essential. Despite the multiplicity of symptoms, some signs are pathognomonic and must be known by the pulmonologist. Pulmonary function tests, CT scan, neuromuscular biopsy help to diagnose neuromuscular diseases and to prevent complications. Screening for neuromuscular diseases is crucial to provide as quickly as apossible appropriate treatments such as noninvasive ventilation and, in some cases, advance directives.