Classic multiminicore myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MINICORE MYOPATHY, SEVERE CLASSIC FORM
DESMIN-RELATED MYOPATHY WITH MALLORY BODIES
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE
MULTICORE MYOPATHY, SEVERE CLASSIC FORM
RIGID SPINE SYNDROME
MYOPATHY, SEPN1-RELATED
MULTIMINICORE DISEASE, SEVERE CLASSIC FORM
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
RSMD1
MDRS1
RSS
Classic MmD
Classic multiminicore disease
Number of Symptoms 42
OrphanetNr: 324604
OMIM Id: 602771
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: 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:0005991) Limited neck flexion 3 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0002650) Scoliosis 705 / 7739
6
 (HPO:0003306) Spinal rigidity 30 / 7739
7
 (HPO:0001371) Flexion contracture 220 / 7739
8
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
9
 (HPO:0004325) Decreased body weight 492 / 7739
10
 (HPO:0004322) Short stature 1232 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0002792) Reduced vital capacity 17 / 7739
13
 (HPO:0001620) High pitched voice 32 / 7739
14
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
15
 (HPO:0001611) Nasal speech 48 / 7739
16
 (HPO:0002877) Nocturnal hypoventilation 9 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (HPO:0003327) Axial muscle weakness 10 / 7739
19
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0003787) Type 1 and type 2 muscle fiber minicore regions 3 / 7739
22
 (HPO:0001252) Muscular hypotonia 990 / 7739
23
 (HPO:0003700) Generalized amyotrophy 39 / 7739
24
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
 (HPO:0002421) Poor head control 23 / 7739
26
 (HPO:0003560) Muscular dystrophy 88 / 7739
27
 (HPO:0003324) Generalized muscle weakness 48 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Merosin-positive biopsy 5 / 7739
30
 (OMIM) Flat thorax 3 / 7739
31
 (OMIM) Plaques immunoreactive for desmin and alpha-beta-crystallin 3 / 7739
32
 (OMIM) Mallory-like bodies 3 / 7739
33
 (OMIM) Amorphous granulofilamentous material associated with Z-discs 3 / 7739
34
 (OMIM) Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 5 / 7739
35
 (OMIM) Limited flexion 3 / 7739
36
 (OMIM) Nasal, high-pitched voice 3 / 7739
37
 (OMIM) Hyaline plaques with absent oxidative activity 3 / 7739
38
 (OMIM) Dystrophic changes may be present 5 / 7739
39
 (OMIM) Minicore regions are poorly defined and do not extend through entire fiber length 5 / 7739
40
 (HPO:0003593) Infantile onset 249 / 7739
41
 (OMIM) Myofibrillar lesions 3 / 7739
42
 (HPO:0003680) Nonprogressive disorder 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the ...
Clinical Description OMIM Rigid spine syndrome, first reported by Dubowitz (1973), is characterized by marked limitation in flexion of the whole dorsolumbar and cervical spine, owing to contracture of the spinal extensors and leading to loss of movement of the spine ...
Molecular genetics OMIM Moghadaszadeh et al. (2001) refined the map location of the RSMD1 locus and found evidence of linkage disequilibrium associated with the SEPN1 gene. They identified several mutations in the SEPN1 gene resulting in RSMD1 (e.g., 606210.0001).

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