Congenital multicore myopathy with external ophthalmoplegia

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
MULTICORE MYOPATHY
MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA
MINICORE MYOPATHY
Number of Symptoms 56
OrphanetNr: 98905
OMIM Id: 255320
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0002705) High, narrow palate 308 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0002058) Myopathic facies 26 / 7739
4
 (HPO:0010628) Facial palsy 146 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000544) External ophthalmoplegia 40 / 7739
7
 (HPO:0001270) Motor delay 322 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0002650) Scoliosis 705 / 7739
10
 (HPO:0001380) Ligamentous laxity 8 / 7739
11
 (HPO:0001558) Decreased fetal movement 74 / 7739
12
 (HPO:0001561) Polyhydramnios 191 / 7739
13
 (HPO:0001789) Hydrops fetalis 63 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
16
 (HPO:0000969) Edema 117 / 7739
17
 (HPO:0002093) Respiratory insufficiency 410 / 7739
18
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
19
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
20
 (HPO:0003738) Exercise-induced myalgia 19 / 7739
21
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
22
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
23
 (HPO:0003798) Nemaline bodies rare [HPO:skoehler] 12 / 7739
24
 (HPO:0009046) Difficulty running 17 / 7739
25
 (HPO:0001319) Neonatal hypotonia 101 / 7739
26
 (HPO:0003701) Proximal muscle weakness 105 / 7739
27
 (HPO:0003324) Generalized muscle weakness 48 / 7739
28
 (HPO:0003327) Axial muscle weakness 10 / 7739
29
 (HPO:0003787) Type 1 and type 2 muscle fiber minicore regions 3 / 7739
30
 (HPO:0003560) Muscular dystrophy 88 / 7739
31
 (HPO:0009025) Increased connective tissue 11 / 7739
32
 (OMIM) Focal loss of cross striations on muscle biopsy 1 / 7739
33
 (OMIM) Disorganization of the myofibrillar pattern 1 / 7739
34
 (OMIM) Type 2 fiber hypertrophy 1 / 7739
35
 (OMIM) Minicore regions are poorly defined and do not extend through entire fiber length 5 / 7739
36
 (OMIM) Walking may be limited 1 / 7739
37
 (OMIM) Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 5 / 7739
38
 (OMIM) Difficulty running or inability to run 1 / 7739
39
 (OMIM) Inverted 'V-shaped' mouth 3 / 7739
40
 (OMIM) Greater sartorius involvement than gracilis involvement seen on MRI 1 / 7739
41
 (OMIM) External ophthalmoplegia affecting upward and lateral gaze 1 / 7739
42
 (OMIM) Z-line streaming see on electron microscopy 1 / 7739
43
 (OMIM) Normal serum creatine kinase 12 / 7739
44
 (OMIM) Type 1 fiber atrophy 1 / 7739
45
 (OMIM) Minicores extend full fiber diameter 1 / 7739
46
 (OMIM) Merosin-positive biopsy 5 / 7739
47
 (HPO:0003623) Neonatal onset 22 / 7739
48
 (OMIM) Dystrophic changes may be present 5 / 7739
49
 (OMIM) Increased central nucleation 1 / 7739
50
 (OMIM) Muscle biopsy shows nonspecific myopathic changes 2 / 7739
51
 (OMIM) Type 1 fiber predominance 9 / 7739
52
 (OMIM) Greater soleus involvement than gastrocnemii involvement seen on MRI 1 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
54
 (OMIM) Fiber type disproportion 1 / 7739
55
 (OMIM) Muscle atrophy, limb-girdle and proximal 1 / 7739
56
 (OMIM) Some patients only achieve sitting 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Engel et al. (1971) first reported multiminicore myopathy in 2 affected sibs. The disorder was a congenital myopathy associated with multifocal degeneration of muscle fibers on pathologic examination.

Swash and Schwartz (1981) reported 2 brothers and ...
Molecular genetics OMIM Monnier et al. (2003) found a homozygous splicing mutation in the RYR1 gene (180901.0025) in a patient in whom the diagnosis of multiminicore congenital myopathy with ophthalmoplegia had been made. The 12-year-old boy, whose parents were first cousins, ...