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To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
Pompe disease is an autosomal recessive disease, enzyme replacement therapy (ERT) and new born screen (NBS) had been initiated in Taiwan since 2008. However, residual muscle weakness were noted. Decrease in amplitude of nerve compound muscle action potential (CMAP) and increase spontaneous activity were reported before the imitation of ERT. However, the motor development, motor function and electrodiagnostic presentation which were important in further direction of treatment and rehabilitation program arrangement in infantile Pompe disease (IOPD) under ERT is lacking.
To investigate the motor development, motor function and electrodiagnostic presentation in IOPD under ERT.
This is an observational, prospective, longitudinal, follow-up study. Motor development was assessed by Alberta Infant Motor Scale (AIMS) and Peabody Developmental Motor Scales, Second Edition (PDMS II); motor function was assessed by Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Measure (GMFM). Electrodiagnosis studies include nerve conduction study (NCS) and electromyography (EMG).
Obtain the characteristics of motor development, motor function and electrodiagnosis presentation of IOPD under ERT, and the relation between motor development, motor function and electrodiagnosis presentation.
Observational Model: Cohort, Time Perspective: Prospective
Glycogen Storage Disease Type II
Taipei Veteran General Hospital : Taipei City, Taiwan 11217, R.O.C.
Taipei Veterans General Hospital, Taiwan
Published on BioPortfolio: 2016-05-04T21:53:21-0400
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Database for information on individuals affected with glycogen brancher deficiency, also known as glycogen storage disease type IV
Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is us...
Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
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