Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Autor: Mariacristina Scoto, A. Silwal, Fouad Al-Ghamdi, R. Mein, Goknur Haliloglu, Adnan Y. Manzur, Marion Main, Deborah Ridout, D. Ardicli, L. D'Argenzio, Haluk Topaloglu, Matilde Henriques, Francesco Muntoni, Anne Schmidt, Aidan Laverty, Casie A. Genetti, Francois Abel, Alan H. Beggs, Anna Sarkozy
Rok vydání: 2020
Předmět:
0301 basic medicine
Vital capacity
Pediatrics
Developmental Disabilities
Vital Capacity
Muscle Proteins
Severity of Illness Index
Cohort Studies
0302 clinical medicine
Child
Selenoproteins
Intubation
Gastrointestinal
Research Articles
Gastrostomy
education.field_of_study
Selenoprotein N
General Neuroscience
Hypotonia
Scoliosis
Child
Preschool
Cohort
Disease Progression
Muscle Hypotonia
medicine.symptom
Natural history study
RC321-571
Research Article
Adult
medicine.medical_specialty
Adolescent
Neurosciences. Biological psychiatry. Neuropsychiatry
Young Adult
03 medical and health sciences
FEV1/FVC ratio
Muscular Diseases
medicine
Humans
Mobility Limitation
RC346-429
education
Myopathy
business.industry
Infant
medicine.disease
Respiration
Artificial
030104 developmental biology
Neurology. Diseases of the nervous system
Neurology (clinical)
business
030217 neurology & neurosurgery
Zdroj: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
ISSN: 2328-9503
DOI: 10.1002/acn3.51218
Popis: Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N‐related myopathy and single‐center retrospective longitudinal analysis of 25 patients (21 families) over a median period of 5.3 years. Results The majority of patients (46/60, 77%) presented before age 2 years with hypotonia, poor head/neck control, and developmental delay. At last assessment (median age 14 years; range 2.5 to 36 years), 10/60 patients had minimal or no ambulation. Ventilatory support was initiated in 50/60 patients at a mean Forced Vital Capacity (FVC) of 38% and at a median age of 13 years. Forty‐five/60 patients developed scoliosis (at median age 12.1 years) and 18 had scoliosis surgery at a median age of 13.6 years. Five children needed nasogastric feeds and/or gastrostomy. Longitudinal data analysis on 25 patients showed progressive decline of Hammersmith functional motor scores (estimated annual change −0.55 point), time to walk 10 meter, time standing from sitting, and from lying. Sixteen patients had weights
Databáze: OpenAIRE
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