|
|
Amyotrophies spinales infantiles
|
Définition:
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Synonyme(s):
Amyotrophie spinale infantile type 1 /
ASI de type 1 /
ASI de type I /
Amyotrophie de Werdnig-Hoffmann /
|
(NLM)®
de l'INSERM (version française)
|
|
|
|
|
|
MALADIES
Malformations et maladies congénitales, héréditaires et néonatales