Hypertrophie musculaire : signe de bonne santé ou de maladie ?

Muscle hypertrophy: indicative of good health or disease?

Centre de Référence des Maladies Neuromusculaires NEiDF Hôpitaux Universitaires de Strasbourg, France

^* Contact aleksandra.nadaj-pakleza@chru-strasbourg.fr

Abstract

In order to explain muscle hypertrophy in a patient complaining of muscular symptoms one must take into account the patient’s daily professional or leisure physical activity.

If muscle hypertrophy cannot be attributed to active lifestyle, an underlying neuromuscular pathology should be suspected. The check-up includes a meticulous neurological examination (looking for myotonia, rippling, myoclonus, etc.), a CK level dosage, an electromyography (for myotonic discharges), and, if necessary, it should be completed by muscle biopsy and molecular examinations.

Several diagnostic hypotheses should be considered. Most are related to a genetic defect leading to dysfunction of the excitation-contraction coupling in the muscle. The diagnosis of a myotonic syndrome is the most common but caveolinopathy 3, RYR1-related myopathy or Brody’s disease are also possible.