Details of Disease

General Information of Disease (ID: DISEHF4P)

• Disease Name: Congenital muscular dystrophy due to LMNA mutation
• Synonyms: MDCL; muscular dystrophy, congenital, LMNA-related; congenital muscular dystrophy caused by mutation in LMNA; L-CMD; congenital muscular dystrophy LMNA-related; LMNA-related congenital muscular dystrophy; muscular dystrophy Congenital, LMNA-related; muscular dystrophy, congenital; LMNA congenital muscular dystrophy
• Definition: Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
• Disease Hierarchy:
  DISKY7OY: Congenital muscular dystrophy
  DISEHF4P: Congenital muscular dystrophy due to LMNA mutation
• Disease Identifiers:
  MONDO ID: MONDO_0013178
  MESH ID: C567708
  UMLS CUI: C2750785
  OMIM ID: 613205
  MedGen ID: 413043
  Orphanet ID: 157973
  SNOMED CT ID: 771272007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNA	OT3SG7ZR	Supportive	Autosomal dominant	[1]

References

• [1] De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.