Emery-Dreifuss syndrome

Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare, genetically inherited condition characterized by early-onset contractures, slowly progressive muscle weakness, and cardiac involvement. It is named after Alan Emery and Fritz E. Dreifuss, who first described the syndrome in the 1960s. EDMD is classified into several types based on the mode of inheritance and the gene involved.

Etiology and Genetics

EDMD can be caused by mutations in several genes, including EMD (encoding emerin), LMNA (encoding lamin A/C), and others less commonly involved such as FHL1. The condition can be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner, depending on the gene mutation. The most common forms are due to mutations in the EMD gene (X-linked) and LMNA gene (autosomal dominant).

Clinical Features

The hallmark features of EDMD are:

• Muscle Weakness and Wasting: Initially affecting the upper arms and lower legs, progressing slowly to other areas.
• Joint Contractures: Early onset, typically in the elbows, ankles, and neck, leading to restricted movement.
• Cardiac Involvement: Including conduction defects, arrhythmias, and dilated cardiomyopathy, which can be life-threatening.

Diagnosis

Diagnosis of EDMD is based on clinical examination, family history, and genetic testing. Muscle biopsy and cardiac evaluation, including electrocardiogram (ECG) and echocardiography, may also be helpful in the diagnostic process.

Management

There is no cure for EDMD, but management focuses on symptom relief and prevention of complications. This may include:

• Physical therapy and stretching exercises to improve mobility and delay contracture formation.
• Cardiac monitoring and interventions, such as pacemakers or implantable cardioverter-defibrillators (ICDs), to manage heart complications.
• Genetic counseling is recommended for affected individuals and their families.

Prognosis

The prognosis for individuals with EDMD varies. While the muscle weakness and contractures can significantly impact quality of life, it is the cardiac involvement that most often determines the prognosis. With appropriate management, individuals with EDMD can live into mid to late adulthood.

See Also

• Muscular Dystrophy
• Cardiomyopathy
• Genetic Disorders

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