Preferred Label : Reducing body myopathy;
ICD-11 definition : Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle
weakness and the presence of characteristic inclusion bodies in affected muscle fibres.
Although early development is generally normal (up to 2 years of age), onset during
infancy or early childhood appears to be associated with severe myopathy, hypotonia
and rapidly progressive muscle weakness leading to death due to respiratory insufficiency
within the first five years of life. Onset during childhood or adulthood is characterised
by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive
disease course.;
Origin ID : 397698784;
UMLS CUI : C0270970;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle
weakness and the presence of characteristic inclusion bodies in affected muscle fibres.
Although early development is generally normal (up to 2 years of age), onset during
infancy or early childhood appears to be associated with severe myopathy, hypotonia
and rapidly progressive muscle weakness leading to death due to respiratory insufficiency
within the first five years of life. Onset during childhood or adulthood is characterised
by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive
disease course.
