Rigid spine syndrome

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
Number of Symptoms 34
OrphanetNr: 97244
OMIM Id: 602771
ICD-10: G71.2
UMLs:
MeSH: C535683
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -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:0010628) Facial palsy 146 / 7739
2
 (HPO:0005991) Limited neck flexion 3 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0002650) Scoliosis 705 / 7739
6
 (HPO:0001371) Flexion contracture 220 / 7739
7
 (HPO:0003306) Spinal rigidity 30 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0004325) Decreased body weight 492 / 7739
11
 (HPO:0002877) Nocturnal hypoventilation 9 / 7739
12
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
13
 (HPO:0002792) Reduced vital capacity 17 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0003327) Axial muscle weakness 10 / 7739
19
 (HPO:0003700) Generalized amyotrophy 39 / 7739
20
 (HPO:0003324) Generalized muscle weakness 48 / 7739
21
 (HPO:0002421) Poor head control 23 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (OMIM) Dystrophic changes may be present 5 / 7739
24
 (OMIM) Limited flexion 3 / 7739
25
 (OMIM) Amorphous granulofilamentous material associated with Z-discs 3 / 7739
26
 (OMIM) Plaques immunoreactive for desmin and alpha-beta-crystallin 3 / 7739
27
 (OMIM) Nasal, high-pitched voice 3 / 7739
28
 (OMIM) Mallory-like bodies 3 / 7739
29
 (OMIM) Minicore regions are poorly defined and do not extend through entire fiber length 5 / 7739
30
 (OMIM) Flat thorax 3 / 7739
31
 (OMIM) Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria 5 / 7739
32
 (OMIM) Myofibrillar lesions 3 / 7739
33
 (OMIM) Hyaline plaques with absent oxidative activity 3 / 7739
34
 (OMIM) Merosin-positive biopsy 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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