Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.
The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
|Natural History of Type 1 Spinal Muscular Atrophy (SMA)|
|Study Design:||Observational Model: Case-Only
Time Perspective: Retrospective
|Official Title:||Natural History of Spinal Muscular Atrophy Type 1 in Taiwan|
- Age of death [ Time Frame: up to 36 years ]participants will be followed till the age of death
- Age of permanent ventilation [ Time Frame: up to 36 years ]participants will be followed till ventilation used 24 hours/day
- Clinical outcome with the following measures-1 [ Time Frame: up to 36 years ]Age of onset
- Clinical outcome with the following measures-2 [ Time Frame: up to 36 years ]Copy numbers of SMN2 gene
- Clinical outcome with the following measures-3 [ Time Frame: up to 36 years ]Methods of Nutritional Supportive
- Clinical outcome with the following measures-4 [ Time Frame: up to 36 years ]Methods of Respiratory Supportive
|Study Start Date:||June 2015|
|Study Completion Date:||December 2015|
|Primary Completion Date:||December 2015 (Final data collection date for primary outcome measure)|
type 1 spinal muscular atrophy
The age of onset of patients with type 1 SMA is below 6 months of age.