Genetics Home Reference:23 Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.
MalaCards based summary: Intranuclear Rod Myopathy, also known as nemaline myopathy with exclusively intranuclear rods, is related to myopathy and nemaline myopathy. An important gene associated with Intranuclear Rod Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle, pituitary and ovary.
Diseases related to Intranuclear Rod Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:
MalaCards organs/tissues related to Intranuclear Rod Myopathy:33
Skeletal muscle, Pituitary, Ovary
Articles related to Intranuclear Rod Myopathy:
Search GEO for disease gene expression data for Intranuclear Rod Myopathy.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet