Catalog

Congenital neuromuscular disorder with uniform type 1 fibre

No MMS code

Link to WHO Definition

Congenital neuromuscular disorder with uniform type 1 fibre – http://id.who.int/icd/entity/1873304396

Rare type of congenital myopathy clinically characterised by mild proximal muscle weakness, decreased or absent reflexes, normal serum creatine kinase levels and myopathic electromyography finding. Pathologically, it is characterised by uniform type 1 fibre which is defined as more than 99% of muscle fibres belonging to fibre type 1 and no specific structural abnormality such as nemaline bodies, cores, or centrally placed nuclei.