A case of nemaline myopathy studied over a period of nine years

We report a case of a boy of 13 who was born with muscular hypotony which has tended to improve over the course of the years. He was examined for the first time when he was 4 years old and a diagnosis was made of 'congenital myopathy'. Examination showed curved feet, gothic palate, severe laxity of the ligaments, and spider fingers which evoked Marfan's syndrome. The present myopathy is concentrated in the shoulder girdle and the E.M.G. showed 'myogenic' tracings. Biopsy of the deltoid showed the presence of large numbers of rods in all muscle fibers stained with Engel's modified trichromic stain, localized mainly under the sarcolemma. Histochemical staining showed no evidence of differences in the fibers, all of which had the same enzymatic activity. A diagnosis was made of nemaline myopathy. As the authors were able to follow clinical progress in this case for nine consecutive years, they could confirm that not only was the disease non-progressive but that it was regressing in this patient.