Congenital myopathy 1b, autosomal recessive

Preferred Label : Congenital myopathy 1b, autosomal recessive;

Symbol : CMYP1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multicore myopathy; Multiminicore disease with external ophthalmoplegia; Minicore myopathy with external ophthalmoplegia; Minicore myopathy; Multicore myopathy with external ophthalmoplegia; Multiminicore myopathy;

Description : Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002). Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia. Skeletal muscle biopsy may show variable features (summary by Kondo et al., 2012). Antenatal onset of minicore myopathy with arthrogryposis (607552) has been described. See also rigid spine muscular dystrophy (RSMD1; 602771), which is caused by mutation in the SEPN1 gene (606210).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ryanodine receptor-1 gene (RYR1, 180901.0025);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #255320;

Details

Origin ID

255320;

UMLS CUI

C1850674;

Automatic exact mappings (from CISMeF team)
- Multicore myopathy [PASCAL descriptor]
- Multicore myopathy [MedDRA LLT]
Currated CISMeF NLP mapping
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multi-minicore disease with external ophthalmoplegia (disorder) [SNOMED CT concept]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Minicore Myopathy with External Ophthalmoplegia [NCIt concept]
- Minicore myopathy [HPO term]
- Multiminicore myopathy [ORDO Disease]
- minicore myopathy with external ophthalmoplegia [MeSH concept]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
Genes related to phenotype
- Ryanodine receptor 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Difficulty running [HPO term]
- Dystrophic changes may be present [HPO term]
- Exercise-induced myalgia [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized muscle weakness [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrops fetalis [HPO term]
- Hypotonia [HPO term]
- Increased connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Joint laxity [HPO term]
- Merosin-positive biopsy [HPO term]
- Minicore myopathy [HPO term]
- Minicore regions are poorly defined and do not extend through entire fiber length [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
- Muscle weakness, diffuse [HPO term]
- Muscular dystrophy [HPO term]
- Myopathic facies [HPO term]
- Nemaline bodies [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Ophthalmoplegia predominantly affects upward and lateral gaze [HPO term]
- Polyhydramnios [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Type 1 and type 2 muscle fiber minicore regions [HPO term]
Not associated HPO term(s)
- Abnormal circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Multiminicore myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Minicore Myopathy with External Ophthalmoplegia [NCIt concept]
- Minicore myopathy [HPO term]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Multi-minicore disease [ICD-11 More detail]

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