Emery-Dreifuss muscular dystrophy

Pathology

• muscle weakness & muscle atrophy without involvement of the nervous system

Genetics

• X-linked form associated with defects in emerin gene
• autosomal dominant (type 2) & autosomal recessive (type 3) forms associated with defects in LMNA gene
• associated with defects in SYNE1 (type 4)
• associated with defects in SYNE2 (type 5)

Clinical manifestations

• slowly progressive muscle wasting & muscle weakness
  • affected children (X-linked form) survive into adulthood
• proximal muscle weakness > distal weakness
• early contractures of the elbows, Achilles tendons & spine
• cardiomyopathy associated with cardiac conduction defects (autosomal dominant form)
• onset: 17-42 years of age (autosomal dominant form)

More general terms

• muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/310300
• OMIM: https://mirror.omim.org/entry/181350
• OMIM: https://mirror.omim.org/entry/150330
• OMIM: https://mirror.omim.org/entry/612998
• OMIM: https://mirror.omim.org/entry/612999
• OMIM: https://mirror.omim.org/entry/604929