Moderate multiminicore disease with hand involvement

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 26
OrphanetNr: 178145
OMIM Id: 117000
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiminicore myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001270) Motor delay 322 / 7739
2
(HPO:0001760) Abnormality of the foot 96 / 7739
3
(HPO:0001371) Flexion contracture 220 / 7739
4
(HPO:0001763) Pes planus 176 / 7739
5
(HPO:0002751) Kyphoscoliosis 131 / 7739
6
(HPO:0001374) Congenital hip dislocation 51 / 7739
7
(HPO:0001945) Fever 218 / 7739
8
(HPO:0002047) Malignant hyperthermia Occasional [HPO:skoehler] 20 / 7739
9
(HPO:0003324) Generalized muscle weakness 48 / 7739
10
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
11
(HPO:0003798) Nemaline bodies 12 / 7739
12
(HPO:0001319) Neonatal hypotonia 101 / 7739
13
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
14
(HPO:0003677) Slow progression 134 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 2 / 7739
17
(OMIM) Cores contain densely packed myofilaments 2 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(OMIM) Nemaline rods may be observed 2 / 7739
20
(HPO:0003812) Phenotypic variability 129 / 7739
21
(OMIM) Increased internal nuclei in skeletal muscle fibers 2 / 7739
22
(OMIM) Changes in sarcoplasmic reticulum and t-tubules 3 / 7739
23
(OMIM) Cores extend along length of muscle fiber 2 / 7739
24
(HPO:0003593) Infantile onset 249 / 7739
25
(OMIM) Cores have abrupt borders within normal regions of the muscle fiber 2 / 7739
26
(HPO:0003680) Nonprogressive disorder 23 / 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 ...