Article

Typical childhood spinal muscular atrophy is a disease that affects the anterior
horn of the spinal cord related to SMN1 gene defects. Since no etiological
treatment is currently available, its management is necessarily symptomatic and
involves multidisciplinary care. The national plan on rare diseases for 2005-2008
developed by the French Ministry of Health resulted in the creation of 12
reference centres for neuromuscular diseases, mainly to improve their diagnosis
and management. During the first one-day clinical research meeting on
neuromuscular disorders, organized by the French Association to fight myopathies
(AFM) in May 2007, clinicians from the 12 national reference centers led
workshops for each of the main neuromuscular diseases. Concerning spinal muscular
atrophy, discussions involving specialists from medical and allied professions
were led by clinicians in charge of the workshop sessions. This paper reports the
final version of their recommendation regarding the diagnosis, monitoring and
management of typical infantile spinal muscular atrophy, which is necessarily
multidisciplinary, including orthopedic, pulmonary, gastroenterology and
nutrition care.
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Langue : ANGLAIS