RSMD1
MCID: RGD003
MIFTS: 55
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Rigid Spine Muscular Dystrophy 1 (RSMD1)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Rigid Spine Muscular Dystrophy 1:
Characteristics:Orphanet epidemiological data:59
desmin-related myopathy with mallory body-like inclusions
Inheritance: Autosomal recessive;
rigid spine syndrome
Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy nonprogressive or slowly progressive cause of death usually due to respiratory failure before adulthood HPO:32
rigid spine muscular dystrophy 1:
Onset and clinical course infantile onset nonprogressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97244Disease definitionRigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.Visit the Orphanet disease page for more resources.
MalaCards based summary : Rigid Spine Muscular Dystrophy 1, also known as rigid spine syndrome, is related to reducing body myopathy and muscle disorders, and has symptoms including generalized muscle weakness and facial paresis. An important gene associated with Rigid Spine Muscular Dystrophy 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. Affiliated tissues include testes, heart and skeletal muscle, and related phenotypes are high palate and failure to thrive Disease Ontology : 12 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has material basis in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. OMIM : 57 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 desmin gene (Ferreiro et al., 2004). For other forms of DRM, see primary desminopathy (601419). (602771) UniProtKB/Swiss-Prot : 75 Rigid spine muscular dystrophy 1: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602771Human phenotypes related to Rigid Spine Muscular Dystrophy 1:59 32 (show top 50) (show all 56)
UMLS symptoms related to Rigid Spine Muscular Dystrophy 1:generalized muscle weakness, facial paresis MGI Mouse Phenotypes related to Rigid Spine Muscular Dystrophy 1:46
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Cochrane evidence based reviews: rigid spine syndrome |
MalaCards organs/tissues related to Rigid Spine Muscular Dystrophy 1:41
Testes,
Heart,
Skeletal Muscle
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Articles related to Rigid Spine Muscular Dystrophy 1:(show top 50) (show all 63)
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UniProtKB/Swiss-Prot genetic disease variations for Rigid Spine Muscular Dystrophy 1:75
ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:6 (show top 50) (show all 149)
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Search
GEO
for disease gene expression data for Rigid Spine Muscular Dystrophy 1.
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Cellular components related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
Biological processes related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
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