par Bisciglia, Michela 
;Malfatti, Edoardo
Référence Journal de pédiatrie et de puériculture, 33, 6, page (260-267)
Publication Publié, 2020-12
;Malfatti, EdoardoRéférence Journal de pédiatrie et de puériculture, 33, 6, page (260-267)
Publication Publié, 2020-12
Article révisé par les pairs
| Résumé : | Congenital myopathies are a heterogeneous group of neuromuscular hereditary disorders. Onset is tipically at birth, with a generalized hypotonia and associated bulbar weakness, or during childhood, with a proximal weakness of the four limbs and delayed motor milestones. Their classification relies on morphological aspects on muscular biopsy, which shows some typical architectural changes. Clinical course is usually slowly progressive, but severe, congenital forms can be seen. The phenotypical spectrum is variable, depending on the causative gene. To the present day, 40 different genes have been identified as responsible for congenital myopathies. But new entities are to be described, since at least for one third of the patients the genetical cause remains unknown. Management of congenital myopathies is based on a multidisciplinary approach and supportive measures. Trials on gene therapy are currently ongoing and first results are encouraging. |
