Preferred Label : Multi-minicore disease;
ICD-11 definition : Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterized
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).;
ICD-11 inclusion : multi-core congenital myopathy; multi-core disease; multicore disease; minicore disease; multicore disorder;
Origin ID : 880281117;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Multi-minicore disease (MmD) is a hereditary neuromuscular disorder characterized
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).
