Desmin-related myopathy with Mallory body-like inclusions

General Information (adopted from Orphanet):

Synonyms, Signs: MINICORE MYOPATHY, SEVERE CLASSIC FORM
MULTICORE MYOPATHY, SEVERE CLASSIC FORM
RIGID SPINE SYNDROME
MYOPATHY, SEPN1-RELATED
DESMIN-RELATED MYOPATHY WITH MALLORY BODIES
MULTIMINICORE DISEASE, SEVERE CLASSIC FORM
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE
RSMD1
MDRS1
RSS
Early-onset desmin-related myopathy
Number of Symptoms 34
OrphanetNr: 84132
OMIM Id: 602771
ICD-10: G71.8
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: Inclusion myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of desmin
 -Rare genetic disease
Qualitative or quantitative defects of selenoprotein N1
 -Rare genetic 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:0001508) Failure to thrive 454 / 7739
9
 (HPO:0004322) Short stature 1232 / 7739
10
 (HPO:0004325) Decreased body weight 492 / 7739
11
 (HPO:0002792) Reduced vital capacity 17 / 7739
12
 (HPO:0002877) Nocturnal hypoventilation 9 / 7739
13
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
14
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0003324) Generalized muscle weakness 48 / 7739
18
 (HPO:0003700) Generalized amyotrophy 39 / 7739
19
 (HPO:0003327) Axial muscle weakness 10 / 7739
20
 (HPO:0001252) Muscular hypotonia 990 / 7739
21
 (HPO:0002421) Poor head control 23 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (OMIM) Mallory-like bodies 3 / 7739
24
 (OMIM) Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 5 / 7739
25
 (OMIM) Hyaline plaques with absent oxidative activity 3 / 7739
26
 (OMIM) Limited flexion 3 / 7739
27
 (OMIM) Amorphous granulofilamentous material associated with Z-discs 3 / 7739
28
 (OMIM) Plaques immunoreactive for desmin and alpha-beta-crystallin 3 / 7739
29
 (OMIM) Myofibrillar lesions 3 / 7739
30
 (OMIM) Dystrophic changes may be present 5 / 7739
31
 (OMIM) Flat thorax 3 / 7739
32
 (OMIM) Nasal, high-pitched voice 3 / 7739
33
 (OMIM) Merosin-positive biopsy 5 / 7739
34
 (OMIM) Minicore regions are poorly defined and do not extend through entire fiber length 5 / 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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