Emery-Dreifuss muscular dystrophy is characterized by the clinical triad of 
early onset contractures of elbows, Achilles tendons and spine, wasting and 
weakness with a predominantly humero-peroneal distribution and life-threatening 
cardiac conduction defects and/or cardiomyopathy. Two main types of inheritance 
have been described: the X-linked form is caused by mutations in the STA gene on 
locus Xq28 and the gene for the autosomal dominant form (LMNA gene) has been 
localized on chromosome 1q11-q23. Recently, mutations in this LMNA gene have 
been also found to be responsible for the less frequent autosomal recessive form 
of the disease. Although all forms share a similar clinical presentation, some 
differences appear to exist between them as has been described recently in a 
large number of patients. We present the first documented Spanish family 
genetically confirmed to have autosomal dominant Emery-Dreifuss muscular 
dystrophy. Clinical, pathological and genetic data are described. We emphasize 
the difficulties in diagnosis, especially in sporadic cases or young patients in 
whom the clinical picture is not completely established.