Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The...

PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families ...

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci...

IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...

Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It was normal in scapuloperoneal and limb...

PURPOSE Low intraocular pressure (IOP) measured by Goldmann applanation tonometry (GAT) is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis) in patients with myotonic dystrophy. METHODS A total of 12 eyes of 6 patients with Steine...

Hereditary retinal dystrophies are clinically and genetically heterogeneous group of conditions, many which have similar symptoms functional findings, making correct diagnosis difficult. Bietti corneoretinal dystrophy is a rare form hereditary with an autosomal recessive mode inheritance. With this dystrophy, yellow-white crystals visualized on the retina progressive atrophy pigment epithelium,...

Myotonic dystrophy type 1 or Steinert’s disease is the most common form of adult muscular dystrophy affecting multiple systems with a wide spectrum of phenotypes. This paper focuses on the different methods to diagnose myotonic dystrophy type 1 that have been used over the years and the various modifications that have been made to the previous diagnostics. The different diagnostic assays and th...

The purpose of present study is to discuss the clinical findings and management options of posterior polymorphous corneal dystrophy and to review the current literature on this rare entity. We report a case of asymptomatic posterior polymorphous corneal dystrophy. Posterior polymorphous corneal dystrophy is a rare, familial clinical entity with subtle findings that are important to recognize, a...