A new classification of limb‑girdle muscular dystrophy, which was adopted in 2018, is given. The reasons why there a need to revise the are indicated. definition this pathology diseases that were excluded from dystrophy due inconsistency with form comparison and old group dystrophies genes responsible for development various forms indicated, as well proteins striated musculature, synthesis disr...

Reflex sympathetic dystrophy, also known as complex regional pain syndrome type I, is a multisymptom syndrome usually affecting one or more extremities. It is inadequately understood and, therefore, often frustrating to treat. This article presents a case study of a 23-year career nurse who developed reflex sympathetic dystrophy of the left knee. It also reviews the rationale for reflex sympath...

Muscular dystrophy is a progressive disease of muscle weakness, muscle atrophy and cardiac dysfunction. Patients afflicted with muscular dystrophy exhibit autonomic dysfunction along with cognitive impairment, severe depression, sadness, and anxiety. Although the psychological aspects of cardiovascular disorders and stress disorders are well known, the physiological mechanism underlying this re...

The hereditary Thiel-Behnke corneal dystrophy, first described in 1967, is frequently confused with Reis-Bucklers dystrophy. Both conditions affect Bowman’s layer and can be difficult to differentiate both clinically and histopathologically. Previously, electron microscopic studies of corneal dystrophies affecting Bowman’s layer identified characteristic ‘‘curly fibres,’’ but it was unclear whe...

Nine biotinylated lectins were used as histochemical probes to localize the carbohydrates residues of glycoconjugates in normal corneas and in corneas with macular and granular dystrophy. The lectin binding patterns of normal corneas and of corneas with granular dystrophy were indistinguishable from one another, but were distinctly different from those found in corneas with macular dystrophy. C...

AIMS To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of betaig-h3 gene. METHODS Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed betaig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II an...

BACKGROUND Cardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has recently been studied in a clinical trial for Duchenne muscular dystrophy. METHODS AND RESULTS Tadalafil was evaluated for the prevention of c...

INTRODUCTION Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE To evaluate the prevalence of stromal co...

Duchenne type muscular dystrophy is a condition which begins in infancy or early childhood, and is characterized by progressive muscle weakness leading to death in the late teens or early twenties (Walton and Nattrass, I954). This type of muscular dystrophy has been variously referred to as 'pseudohypertrophic muscular dystrophy' (Bell, I948), 'progressive muscular dystrophy of childhood' (Step...

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical electrical myotonia, prior history cataract extraction. He had dominant family keeping similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction diagnostic laboratory did not identify typical CTG repeat expansion on two se...