Central core disease

General Information (adopted from Orphanet):

Synonyms, Signs: MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED
CNMDU1, INCLUDED
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED
MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED
CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED
CCD
Number of Symptoms 20
OrphanetNr: 597
OMIM Id: 117000
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.4 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy with cores
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001270) Motor delay 322 / 7739
2
(HPO:0002751) Kyphoscoliosis 131 / 7739
3
(HPO:0001760) Abnormality of the foot 96 / 7739
4
(HPO:0001763) Pes planus 176 / 7739
5
(HPO:0001374) Congenital hip dislocation 51 / 7739
6
(HPO:0001371) Flexion contracture 220 / 7739
7
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
8
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
9
(HPO:0003324) Generalized muscle weakness 48 / 7739
10
(HPO:0001319) Neonatal hypotonia 101 / 7739
11
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
12
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
13
(OMIM) Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 2 / 7739
14
(OMIM) Cores extend along length of muscle fiber 2 / 7739
15
(OMIM) Cores contain densely packed myofilaments 2 / 7739
16
(OMIM) Cores have abrupt borders within normal regions of the muscle fiber 2 / 7739
17
(OMIM) Changes in sarcoplasmic reticulum and t-tubules 3 / 7739
18
(OMIM) Nemaline rods may be observed 2 / 7739
19
(OMIM) Increased internal nuclei in skeletal muscle fibers 2 / 7739
20
(HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and ...
Clinical Description OMIM Central core disease is one of the conditions that produces the 'floppy infant' (see 205000). Central core disease was the first described (Shy and Magee, 1956) example of a stationary muscle disorder, although the name was not given ...
Molecular genetics OMIM Zhang et al. (1993) and Quane et al. (1993) identified mutations in the ryanodine receptor-1 gene in patients with central core disease (see e.g. 180901.0003 and 180901.0005).

Lynch et al. (1999) studied a large Mexican kindred ...

Diagnosis GeneReviews The diagnosis of central core disease (CCD) is based on a combination of clinical findings of muscle weakness and histopathologic findings of characteristic cores on muscle biopsy (see Testing), and confirmed in most cases by the presence of a disease-causing mutation in the gene RYR1 (see Molecular Genetic Testing)....
Clinical Description GeneReviews The expressivity of central core disease (CCD) is variable, ranging clinically from mild (i.e., almost asymptomatic) to severe (i.e., ventilator-dependent) and histologically varying in the extent and localization of cores in the muscle fibers....
Genotype-Phenotype Correlations GeneReviews Although most RYR1 mutations that result in CCD are inherited in an autosomal dominant manner, reports of autosomal recessive inheritance are increasing. At the moment, it is not possible to predict the mode of inheritance based on the mutation alone....
Differential Diagnosis GeneReviews The clinical findings of central core disease (CCD) are variable and not disease specific; they can be seen in other congenital myopathies. Thus, from a clinical standpoint CCD cannot be readily distinguished from other congenital myopathies, such as multiminicore disease, CNMDU1 (see Allelic Disorders), the intermediate form of nemaline myopathy, fingerprint body myopathy, congenital fiber-type disproportion, hyaline body myopathy, reducing body myopathy, and cylindrical spirals myopathy. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with central core disease (CCD), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....