Greffe Myopathy

**Graefe myopathy** is a hereditary progressive neuromuscular disease that manifests itself with skeletal and oculomotor symptoms associated with decreased functionality of the muscles of paralyzed eyes. This is a defect in the functioning of skeletal muscles, causing a myopathic state of the muscles of the eyeball, which in turn entails a decrease in visual acuity, diplopia and decreased mobility of the eyeballs. The most well-known complication of the disease is a reduction in the lifespan of brain neurons.

This term was introduced by the Czech ophthalmologist Jiri Graefe (1867–1934), who was one of the first to describe myopia as a disease and draw attention to its connection with mental disorders. In 1942, his compatriot, therapist K. M. Rosenberg proposed to call “Grefe” a complex of ophthalmological symptoms included in the clinical picture of this disease, including various disorders of the oculomotor system. We are talking about myopia, strabismus, double vision, paralysis of the abductor rectus muscles of the eye and/or nerve damage. The mechanism of development of this group of lesions in Graefe is associated with muscle hypotonia and myodystrophy of the small circular muscles, leading to its innervation of either the spinal cord or a more distal portion of the optic nerve. There is evidence that the cause of the disease may be hereditary information transmitted with gender. However, exactly how these genes are transmitted remains to be seen.

*Hereditary forms* of this disease can be suspected in children with average height (150-160 cm), a narrowed forehead diameter with normal values ​​for other head sizes, recessed hair roots above the temples, a high sloping nape, a low-set and macerated nose, a funnel-shaped deformity of the chest cells, lesser trochanters, finger-toe-shaped scrotum, hearing loss, low, narrowed ears, weak iris, pinpoint pupils, subretinal leukodystrophy. Possible vascular abnormality. But there are other syndromes that are further associated with defects in certain proteins, mutations of which can presumably cause the development of congenital myopathy in infants. There is also information about the possibility of a connection between the described pathology and developmental disorders of the nervous system, in particular with Down syndrome and a number of syndromes associated with malformations of the reproductive system (interstitial dysplasia of sclerocystic ovaries).

It should be noted that in recent years, many scientific discoveries have been made that provide us with the most accurate understanding of the mechanism of this disease and what components are involved in its progression. The disease develops as various cell and tissue types die over time due to repeated breakdown of their protein structures. Verification of the diagnosis of "graefe" is usually established in the early stages of the disease.