Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...

BACKGROUND Multicore disease and congenital fibre type disproportion myopathy are diseases assigned to the heterogeneous group of congenital myopathies. Although hypotonia and muscle weakness appearing in early life are the commonest manifestations of these diseases, distinct phenotypes and late onset cases have been described. OBJECTIVE To report the occurrence of myalgia as the revealing sy...

Case presentation: Full-term newborn with reduced fetal movements during pregnancy, elective cesarean section, first child of a non-consanguineous couple no family history neurological disease. Apgar 5–5, severe respiratory distress, cyanosis and cardiorespiratory arrest. He required cardiopulmonary resuscitation mechanical ventilation, persisting hypotonia. On examination, facial hypomimia car...

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofibe...