OntologiesordoclassesOrphanet:157973   
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Congenital muscular dystrophy due to LMNA mutation
http://www.orpha.net/ORDO/Orphanet_157973

A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

Also appears inprideefo
    class Information
    definition_citation

    Orphanet

    has_age_of_onset
    • Infancy
    • Neonatal
    has_inheritance

    Autosomal dominant

    notation

    ORPHA:157973

    present_in
    • Worldwide AND has_point_prevalence_range : <1 / 1 000 000
    • Worldwide AND has_cases/families_value : 23.0 (Case(s))
    class Relations