Déficit moteur distal : quand penser à une myopathie ?

A distal weakness may be the expression of a muscular disease. The diagnosis should be suspected from careful clinical history and medical examination. The paraclinical investigations includes CK assessment, electromyographic investigations, muscle imaging and in most cases muscle biopsy. The molecular diagnosis is guided by diagnostic algorithms using morphological and clinical data as the starting point. Distal myopathies are a heterogeneous group of rare muscular diseases. Many remain without genetic characterization. Next-generation sequencing (NGS) may improve molecular diagnosis yield of distal myopathies and highlights the complexity of current distal myopathies classification.