Details of Disease

General Information of Disease (ID: DISA1BDS)

• Disease Name: Rigid spine syndrome
• Synonyms: muscular dystrophy, congenital, merosin positive with early spine rigidity; desmin-related myopathies with Mallory bodies; rigid spine muscular dystrophy-1; rigid spine congenital muscular dystrophy
• Definition: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy 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.
• Disease Hierarchy:
  DISD9P78: Qualitative or quantitative defects of desmin
  DISK51VP: Qualitative or quantitative defects of selenoprotein N1
  DISKY7OY: Congenital muscular dystrophy
  DISA1BDS: Rigid spine syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Supportive	Autosomal recessive	[1]
SELENON	OTSGKO5M	Supportive	Autosomal recessive	[2]

References

• [1] Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3.
• [2] Congenital Muscular Dystrophy Overview C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.