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Rigid spine syndrome(RSS)

MedGen UID:
976241
Concept ID:
CN293569
Disease or Syndrome
Synonyms: rigid spine congenital muscular dystrophy; RSS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related gene: SELENON
 
Monarch Initiative: MONDO:0019951
Orphanet: ORPHA97244

Definition

Congenital myopathy-3 with rigid spine (CMYP3) is an autosomal recessive disorder of the skeletal muscle characterized by hypotonia and proximal muscle weakness apparent from birth or early childhood. Affected individuals show delayed motor development and develop progressive severe and deforming scoliosis ('rigid spine') in the first or second decades. Respiratory involvement due to diaphragmatic weakness is common, and most patients require ventilatory support due to nocturnal hypoventilation; recurrent respiratory infections are also observed. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in those with a low BMI. The muscle weakness is not progressive, and most patients remain ambulatory. Skeletal muscle biopsy typically shows multiminicores, although there are often other abnormal nonspecific myopathic findings. This phenotype has been referred to as 'rigid spine syndrome' (Scoto et al., 2011; Fan et al., 2022; Varone et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Khan Y, Heckmatt JZ, Dubowitz V
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Recent clinical studies

Etiology

Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Reed UC
Arq Neuropsiquiatr 2009 Mar;67(1):144-68. doi: 10.1590/s0004-282x2009000100038. PMID: 19330236
Stübgen JP
Dysphagia 2008 Jun;23(2):110-5. Epub 2007 Aug 13 doi: 10.1007/s00455-007-9102-7. PMID: 17694409
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485

Diagnosis

Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, Verma J, Christopher R, Supriya M, Nashi S, Prasad C, Nadeesh B, Nalini A
J Neuromuscul Dis 2022;9(2):261-273. doi: 10.3233/JND-210728. PMID: 34864681
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Jungbluth H, Sewry CA, Muntoni F
Semin Pediatr Neurol 2011 Dec;18(4):239-49. doi: 10.1016/j.spen.2011.10.005. PMID: 22172419
Goto I, Nagasaka S, Nagara H, Kuroiwa Y
J Neurol Neurosurg Psychiatry 1979 Mar;42(3):276-9. doi: 10.1136/jnnp.42.3.276. PMID: 438838Free PMC Article

Therapy

Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Jorgensen BG, Laub M, Knudsen RH
Paediatr Anaesth 1999;9(4):352-5. doi: 10.1046/j.1460-9592.1999.00377.x. PMID: 10411775

Prognosis

Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D
Neuromuscul Disord 2020 Feb;30(2):165-172. Epub 2019 Nov 28 doi: 10.1016/j.nmd.2019.11.011. PMID: 32001145
Lu H, Liu Z, Li B
J Int Med Res 2019 Feb;47(2):1030-1034. Epub 2019 Jan 7 doi: 10.1177/0300060518815358. PMID: 30614353Free PMC Article
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361
Reed UC
Arq Neuropsiquiatr 2009 Mar;67(1):144-68. doi: 10.1590/s0004-282x2009000100038. PMID: 19330236
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485

Clinical prediction guides

Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC
J Neuromuscul Dis 2023;10(6):1055-1074. doi: 10.3233/JND-221673. PMID: 37807786Free PMC Article
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D
Neuromuscul Disord 2020 Feb;30(2):165-172. Epub 2019 Nov 28 doi: 10.1016/j.nmd.2019.11.011. PMID: 32001145
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M
Ann Neurol 2000 Feb;47(2):152-61. PMID: 10665485
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