Reducing body myopathy (Q100765): Difference between revisions
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A Miopatia de corpos redutores (RBM) é um distúrbio muscular raro caracterizado por fraqueza muscular progressiva e a presença de corpos de inclusão característicos nas fibras musculares afetadas. Embora o desenvolvimento inicial seja geralmente normal (até 2 anos de idade), o início durante a primeira infância parece estar associado a miopatia grave, hipotonia e fraqueza muscular rapidamente progressiva, levando à morte por insuficiência respiratória nos primeiros cinco anos de vida. O início durante a infância ou idade adulta é caracterizado por fraqueza muscular principalmente proximal, uma síndrome da coluna rígida e um curso de doença lentamente progressivo. | |||
| description / en | description / en | ||
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. | |||
Revision as of 17:31, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_397698784 |
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| English | Reducing body myopathy |
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. |
