Preferred Label : Hereditary inclusion body myopathy;
ICD-11 definition : Group of rare muscle disorders with autosomal recessive or dominant inheritance and
presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear
15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form
of ereditary inclusion-body myopathy is due to mutations of the GNE gene that codes
for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in
abnormal sialylation of glycoproteins that possibly leads to muscle fiber degeneration;
ICD-11 synonym : HIBM - [hereditary inclusion body myositis]; hereditary inclusion body myositis;
ICD-11 acronym : HIBM;
Origin ID : 1248099703;
Automatic exact mappings (from CISMeF team)
- See also inter- (CISMeF)
Group of rare muscle disorders with autosomal recessive or dominant inheritance and
presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear
15-21 nm diameter tubulo-filaments as revealed by muscle biopsy. The most common form
of ereditary inclusion-body myopathy is due to mutations of the GNE gene that codes
for a rate-limiting enzyme in the sialic acid biosynthetic pathway. This results in
abnormal sialylation of glycoproteins that possibly leads to muscle fiber degeneration
