congenital myopathy

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Information
Disease name
congenital myopathy
Disease ID
DOID:0081337
Description
"A myopathy that is characterized by hypotonia and weakness, usually present from birth." [url:https\://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03018184 Active, not recruiting Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies December 2016 December 2026
NCT02020187 Completed N/A Aerobic Training in Patients With Congenital Myopathies September 2013 November 2014
NCT04733976 Completed Bullying in Youth With Muscular Dystrophy and Congenital Myopathies January 22, 2021 September 1, 2022
NCT05099107 Enrolling by invitation N/A Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment October 25, 2021 December 31, 2025
NCT05692349 Not yet recruiting Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases January 2023 January 2024
NCT05199246 Recruiting N/A Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders December 1, 2021 July 2024
NCT05200702 Recruiting N/A Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders January 5, 2022 July 2024
Disase is a (Disease Ontology)
DOID:423