Congenital muscular dystrophy due to LMNA mutation
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.
class Information
definition_citation
Orphanet
has_age_of_onset
- Infancy
- Neonatal
has_dbxref
- ICD-10:G71.2
- MeSH:C567708
- OMIM:613205
- UMLS:C2750785
has_inheritance
Autosomal dominant
notation
present_in
- Worldwide AND has_point_prevalence_range : <1 / 1 000 000
- Worldwide AND has_cases/families_value : 23.0 (Case(s))
class Relations
Subclass of
Related from
disease-causing germline mutation(s) in