Emery – Dreifuss Muscular Dystrophy

It is a hereditary, benign form of muscular dystrophy that occurs from the beginning of childhood with a slow progression and mainly concerns skeletal and cardiac muscle. It is inherited either as X-linked (1: 100,000 births), or autosomal dominant (unknown frequency) or autosomal recessive (rarely). In any case, the type of mutation that occurs is different but leads to the production of altered proteins that are essential for cell survival. It is characterized by a specific triad of symptoms:

Early muscle stiffness, mainly in elbows, ankles and neck, starting from childhood.

Muscle weakness that starts from the area of ​​the humerus of upper limb and fibula of the lower limb and extends to shoulders and hips. There is also scoliosis. There is a loss of walking ability mainly in autosomal dominant cases, but rarely in X linked cases.

Almost all patients have heart problems up to the age of 30 years. These are mainly abnormalities of heartbeat and rhythm, and if not treated can lead to cardiomyopathy, bradycardia, cardiac arrest  and sudden death.

Diagnosis

  • Clinical examination.
  • Electrocardiogram – ultrasound.
  • Electromyography.
  • Blood tests and CK enzyme assay.
  • Muscle biopsy.
  • Genetic test.

 

Management

  • Surgery to correct the consequences of muscular contractures (especially in Achilles tendon) and scoliosis.
  • Use of assistive devices (eg walking sticks, trolleys).
  • Monitoring of cardiorespiratory system.
  • Antiarrhythmic drugs – use of pacemakers – heart transplant.
  • Respiratory support (eg ventilator use).
  • Genetic counseling for future pregnancies.

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscular-dystrophy/ and https://clinicaltrials.gov/ct2/home.

 

References

 

Comments are closed.