SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/240084007
http://purl.bioontology.org/ontology/SNOMEDCT/240084007
Preferred Name

Congenital myopathy with fiber type disproportion

Definitions
A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibers. Type 1 muscle fibers are predominant compared to type 2 fibers, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported.
Synonyms
Congenital myopathy with fiber type disproportion (disorder)
Congenital myopathy with fibre type disproportion
Type http://www.w3.org/2002/07/owl#Class
Delete Subject Author Type Created
No notes to display
  • Problem retrieving properties:

Notes

Filter:
Add NCBO Web Widgets to your site for SNOMEDCT
Widget type Widget demonstration
Jump To

Type a class name from SNOMEDCT and jump to it in BioPortal

Get code
Form Autocomplete

Fill your form fields with classes from SNOMEDCT

Get code
Example 1 (start typing the class name to get its full URI)

Example 2 (get the ID for a class)

Example 3 (get the preferred name for a class)
Visualization

Display a visualization for a given class in SNOMEDCT

Get code
Tree Widget

Display a class tree with a search field for SNOMEDCT

Get code