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)
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
