Catalog

Multi-minicore disease

No MMS code

Link to WHO Definition

Multi-minicore disease – http://id.who.int/icd/entity/880281117

Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterised by multiple cores on muscle biopsy and clinical features of a congenital myopathy with important clinical variability that corresponds to genetic heterogeneity: from spinal rigidity, early scoliosis and respiratory impairment, to a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD).