Congenital muscular dystrophy with rigid spine syndrome (CMD with RSS)

Genetics

• This is rigid spine muscular dystrophy (RSPD)
• It is a subtype of merosin-positive CMD
• It is caused by mutations in the selenoprotein N 1 (SEPN1) gene on chromosome 1p

SEPN1-related disorders

Neurological features

Skeletal features

Cardiorespiratory features

Differential diagnosis of spinal rigidity

Treatment

Synonym

References

1. Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000; 47:152-161.
2. Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF. Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. Neurology 2005; 64:395-396.
3. Schara U, Kress W, Bönnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008; 12:224-230.
4. Knoblauch H, Geier C, Adams S, et al. Contracture and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol 2010; 67:136-140.
5. Schessl J, Taratuto AL, Sewry C, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009; 132:452-464.
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