Rigid Spine Syndrome

Reference work entry

The peculiar phenotype caused by the combination of muscle wasting and prominent spinal rigidity was first proposed by (Dubowitz 1965, 1973) and termed “rigid spine syndrome.”

Synonyms and Related Disorders

Congenital muscular dystrophy with spinal rigidity

Genetics/Basic Defects

  1. 1.

    SEPN1 gene mutations resulting in rigid spine congenital muscular dystrophy were first identified by Moghadaszadeh et al. in (Moghadaszadeh et al. 2001).

  2. 2.
    Several different forms of autosomal recessive muscle disorders caused by mutations in the SEPN1 gene (Rederstorff et al. 2007)
    1. a.
      Different forms
      1. i.

        Congenital muscular dystrophy with spinal rigidity (RSMD1) (Moghadaszadeh et al. 2001)

      2. ii.

        Multiminicore myopathy (MmD) (Ferreiro et al. 2002)

      3. iii.

        Desmin-related myopathy with Mallory body-like inclusions (MB-DRM) (Ferreiro et al. 2004)

      4. iv.

        Congenital fiber-type disproportion myopathy (CFTD) (Clarke et al. 2006)

    2. b.
      Share identical clinical features, despite distinctly different...


Codon Immobilization Cardiomyopathy Myopathy Dystonia 


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