Minicore myopathy, antenatal onset, with arthrogryposis

Preferred Label : Minicore myopathy, antenatal onset, with arthrogryposis;

Obsolete resource : true;

Moved to : 255320;

Alternative titles and symbols : Multicore myopathy, antenatal onset, with arthrogryposis; Multiminicore myopathy, antenatal onset, with arthrogryposis;

Description : Multiminicore disease (MmD) is a clinically heterogeneous condition in which several subgroups can be distinguished (see 255320 and 602771). General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed 'minicores') in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease (Ferreiro and Fardeau, 2002).;

Inheritance : Autosomal recessive;

Prefixed ID : 607552;

Details

Origin ID

607552;

UMLS CUI

C1843691;

Automatic exact mappings (from CISMeF team)
- Multiminicore myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Antenatal multi-minicore disease with arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- Antenatal multi-minicore disease with arthrogryposis multiplex congenital [ICD-11 More detail]
- Antenatal multiminicore disease with arthrogryposis multiplex congenita [ORDO Disease]
- Minicore myopathy, antenatal onset, with arthrogryposis [MeSH concept]
- minicore myopathy, antenatal onset, with arthrogryposis [MeSH Supplementary Concept]
HPO term(s)
- Arthrogryposis, congenital [HPO term]
- Dystrophic changes may be present [HPO term]
- High-arched palate [HPO term]
- Merosin-positive biopsy [HPO term]
- Minicore regions are poorly defined and do not extend through entire fiber length [HPO term]
- Muscle weakness, diffuse [HPO term]
- Prominent nasal root [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antenatal multi-minicore disease with arthrogryposis multiplex congenital [ICD-11 More detail]
- Antenatal multiminicore disease with arthrogryposis multiplex congenita [ORDO Disease]
- Minicore myopathy, antenatal onset, with arthrogryposis [MeSH concept]
- minicore myopathy, antenatal onset, with arthrogryposis [MeSH Supplementary Concept]

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