Preferred Label : Congenital neuromuscular disorder with uniform type 1 fibre;
ICD-11 definition : Rare type of congenital myopathy clinically characterized by mild proximal muscle
weakness, decreased or absent reflexes, normal serum creatine kinase levels and myopathic
electromyography finding. Pathologically, it is characterized by uniform type 1 fiber
which is defined as more than 99% of muscle fibers belonging to fiber type 1 and no
specific structural abnormality such as nemaline bodies, cores, or centrally placed
nuclei.;
Origin ID : 1873304396;
UMLS CUI : C2674259;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Rare type of congenital myopathy clinically characterized by mild proximal muscle
weakness, decreased or absent reflexes, normal serum creatine kinase levels and myopathic
electromyography finding. Pathologically, it is characterized by uniform type 1 fiber
which is defined as more than 99% of muscle fibers belonging to fiber type 1 and no
specific structural abnormality such as nemaline bodies, cores, or centrally placed
nuclei.
