[Emery-Dreifuss muscular dystrophy: case report].

Area of Science:

• Genetics
• Neurology
• Cardiology

Background:

• Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is an X-linked recessive genetic disorder.
• It results from mutations in the emerin gene, affecting nuclear envelope proteins.
• Clinical onset typically occurs during adolescence.

Observation:

• A 16-year-old male presented with forearm contractures and first-degree atrioventricular (AV) block.
• Cardiac monitoring revealed severe conduction abnormalities, including sinus pauses and AV dissociation during exercise.
• Elevated creatine kinase (CK) levels were noted.

Findings:

• Immunohistochemistry confirmed the absence of emerin protein in muscle tissue.
• Genetic analysis identified a mutation causative of EDMD1.
• The patient's 21-year-old brother was also diagnosed with EDMD1.

Implications:

• Both affected individuals received permanent pacemakers.
• Early screening for genetic diseases, including muscular dystrophies, is vital in young individuals with cardiac conduction abnormalities.
• This case highlights the importance of integrated cardiac and neurological assessment in suspected EDMD1 patients.