Biomaterial Database

Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). 2020

F Audic, and C Barnerias

Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital de la Timone Enfants, Marseille, France. Electronic address: Frederique.AUDIC@ap-hm.fr.

Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory involvement predominates in the intercostal muscles, and sometimes brainstem involvement are all serious aspects of the disease. Type I spinal muscular atrophy has been subdivided into 3 groups: - type IA, the clinical signs of which set in between birth and 15 days of life with sudden severe motor impairment, sucking-swallowing disorders attesting to bulbar involvement, respiratory distress. - type IB with onset of symptoms before the age of 3 months, which implies no head control - type IC starting between 3 and 6 months with the possibility of checking head control, often referred to as "I bis" by French practitioners. The development and use of innovative therapies in recent years does actually change the natural course of this disease. But we do not know for sure what the long-term evolution of infants who received these new therapies will be. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014897	Spinal Muscular Atrophies of Childhood	A group of recessive 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)	Infantile Spinal Muscular Atrophy,Juvenile Spinal Muscular Atrophy,Kugelberg-Welander Disease,Muscular Atrophy, Spinal, Infantile,Spinal Muscular Atrophy, Infantile,Spinal Muscular Atrophy, Juvenile,Werdnig-Hoffmann Disease,HMN (Hereditary Motor Neuropathy) Proximal Type I,Kugelberg-Welander Syndrome,Muscular Atrophy, Infantile,Muscular Atrophy, Juvenile,Muscular Atrophy, Spinal, Infantile Chronic Form,Muscular Atrophy, Spinal, Intermediate Type,Muscular Atrophy, Spinal, Type I,Muscular Atrophy, Spinal, Type II,Muscular Atrophy, Spinal, Type III,Proximal Hereditary Motor Neuropathy Type I,SMA, Infantile Acute Form,Spinal Muscular Atrophy 1,Spinal Muscular Atrophy Type 2,Spinal Muscular Atrophy Type I,Spinal Muscular Atrophy Type II,Spinal Muscular Atrophy Type III,Spinal Muscular Atrophy, Mild Childhood and Adolescent Form,Spinal Muscular Atrophy, Type 3,Spinal Muscular Atrophy, Type I,Spinal Muscular Atrophy, Type II,Spinal Muscular Atrophy, Type III,Type I Spinal Muscular Atrophy,Type II Spinal Muscular Atrophy,Type III Spinal Muscular Atrophy,Werdnig Hoffman Disease,Infantile Muscular Atrophy,Juvenile Muscular Atrophy,Kugelberg Welander Disease,Kugelberg Welander Syndrome,Werdnig Hoffmann Disease
D018450	Disease Progression	The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.	Clinical Course,Clinical Progression,Disease Exacerbation,Exacerbation, Disease,Progression, Clinical,Progression, Disease