Congenital muscular dystrophy with rigid spine syndrome (CMD with RSS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital muscular dystrophy with rigid spine syndrome (CMD with RSS). This is rigid spine muscular dystrophy (RSPD).
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
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Neurological features
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Skeletal features
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Cardiorespiratory features
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Differential diagnosis of spinal rigidity
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Treatment
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Synonym
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References
- 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.
- 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.
- 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.
- Knoblauch H, Geier C, Adams S, et al. Contracture and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol 2010; 67:136-140.
- 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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