1/5. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.- - - - - - - - - - ranking = 1keywords = neuromuscular disease (Clic here for more details about this article) |
2/5. ophthalmoplegia and ptosis in congenital fiber type disproportion.Bilateral ophthalmoplegia and ptosis is reported for the first time in a patient with a rare neuromuscular disorder, congenital fiber type disproportion (CFTD). The importance of limb muscle biopsy in the diagnostic evaluation is emphasized. A summary is presented of other congenital neuromuscular diseases which may have associated ophthalmoplegia.- - - - - - - - - - ranking = 0.25keywords = neuromuscular disease (Clic here for more details about this article) |
3/5. Clinical features of myasthenia gravis.myasthenia gravis (MG) is an antibody-mediated muscle disease in which any skeletal muscle can be affected. MG may produce numerous symptoms and signs. To doctors and patients, it may seem like lung disease, stroke, heart disease, or the effects of emotional stress. This article explores the "territory" between MG and diseases of the heart and lungs as well as the other neuromuscular diseases.- - - - - - - - - - ranking = 0.25keywords = neuromuscular disease (Clic here for more details about this article) |
4/5. brain atrophy in congenital neuromuscular disease with uniform type 1 fibers.We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (> 98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.- - - - - - - - - - ranking = 1.5keywords = neuromuscular disease (Clic here for more details about this article) |
5/5. Depressed ventilatory response in oculocraniosomatic neuromuscular disease.Four patients with ptosis, external ophthalmoplegia, and ragged-red fibers on muscle biopsy were found to have decreased ventilatory responses to hypoxia and hypercapnia. Respiratory muscle weakness was not responsible for these findings since these responses were normal in muscle disease control patients. An altered metabolic state also can cause diminished ventilatory response, but overall oxygen consumption data in the ragged-red fiber patients were normal. The decreased ventilatory responses may be clinically significant because two of the ragged-red fiber patients had episodes suspicious of hypoventilation with poor response to hypoxia.- - - - - - - - - - ranking = 1keywords = neuromuscular disease (Clic here for more details about this article) |